{"Name":"Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome","DiseaseID__c":"GARD:0022070","id":22070,"encodedName":"skeletal-dysplasia-t-cell-immunodeficiency-developmental-delay-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome","Xref_IDs__c":"C5567899; MEDGEN:1799322; MONDO:0033682; ORPHA:508533","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:508533","Disease_Description__c":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay, variable intellectual disability, skeletal dysplasia, and in many cases T-cell immunodeficiency and other immunologic abnormalities. Skeletal findings include short stature, anomalies of the long bones, hands and feet, and pelvis, platyspondyly, cervical malformation, and pectus excavatum. Dysmorphic facial features, such as coarse face, hypertelorism, and broad nasal tip, may be present. Additional reported manifestations are seizures, hyperreflexia, nystagmus, and muscular hypotonia, as well as multiple liver cysts.","GARD_Name__c":"Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome","GARD_Synonym__c":"extl3 (exostosin like glycosyltransferase 3) related neuro-immuno-skeletal dysplasia syndrome; extl3-related neuro-immuno-skeletal dysplasia syndrome; neuro-immuno-skeletal dysplasia syndrome due to extl3 (exostosin like glycosyltransferase 3) deficiency; neuro-immuno-skeletal dysplasia syndrome due to extl3 deficiency; skeletal dysplasia, t-cell immunodeficiency, developmental delay syndrome","Curated_Disease_Description_Source__c":"ORPHA:508533","Curated_Disease_Description__c":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay, variable intellectual disability, skeletal dysplasia, and in many cases T-cell immunodeficiency and other immunologic abnormalities. Skeletal findings include short stature, anomalies of the long bones, hands and feet, and pelvis, platyspondyly, cervical malformation, and pectus excavatum. Dysmorphic facial features, such as coarse face, hypertelorism, and broad nasal tip, may be present. Additional reported manifestations are seizures, hyperreflexia, nystagmus, and muscular hypotonia, as well as multiple liver cysts.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:508533","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0033682","ORPHANET_ID__c":"ORPHA:508533","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de displasia esquelética-inmunodeficiencia de células t-retraso del desarrollo","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de displasia esquelética-inmunodeficiencia de células t-retraso del desarrollo","Spanish_GARD_Synonym__c":"síndrome de displasia neuro-inmuno-esquelética asociada a extl3; síndrome de displasia neuro-inmuno-esquelética por deficiencia de extl3","Category_Linearization__c":"ORPHA:93419","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of developmental delay, variable intellectual disability, skeletal dysplasia, and in many cases T-cell immunodeficiency and other immunologic abnormalities. Skeletal findings include short stature, anomalies of the long bones, hands and feet, and pelvis, platyspondyly, cervical malformation, and pectus excavatum. Dysmorphic facial features, such as coarse face, hypertelorism, and broad nasal tip, may be present. Additional reported manifestations are seizures, hyperreflexia, nystagmus, and muscular hypotonia, as well as multiple liver cysts.","Curated_Disease_Description_Source__c":"ORPHA:508533","GARD_Synonym__c":"extl3 (exostosin like glycosyltransferase 3) related neuro-immuno-skeletal dysplasia syndrome; extl3-related neuro-immuno-skeletal dysplasia syndrome; neuro-immuno-skeletal dysplasia syndrome due to extl3 (exostosin like glycosyltransferase 3) deficiency; neuro-immuno-skeletal dysplasia syndrome due to extl3 deficiency; skeletal dysplasia, t-cell immunodeficiency, developmental delay syndrome","Name":"Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:508533"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:508533"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/508533","Source__c":"C5567899; MONDO:0033682; ORPHA:508533","Xref__c":"ORPHA:508533"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1799322","Source__c":"C5567899","Xref__c":"MEDGEN:1799322"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567899","Source__c":"C5567899","Xref__c":"C5567899"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0033682","Source__c":"GARD:0022070","Xref__c":"MONDO:0033682"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1177175008","Source__c":"C5567899","Xref__c":"1177175008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EXTL3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A kind of short stature in which different regions of the body are shortened to differing extents.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003498","HPO_Synonym__c":"Short stature, disproportionate","HPO_Name__c":"Disproportionate short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced number of lymphocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001888","HPO_Synonym__c":"Absolute lymphocyte count decrease; Decreased blood lymphocyte number; Low lymphocyte number; Lymphocytopenia; Lymphopenia","HPO_Name__c":"Decreased total lymphocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal increase in size of one or more metaphyses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003051","HPO_Synonym__c":"Enlarged wide portion of a long bone","HPO_Name__c":"Enlarged metaphyses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An eye that is protruding anterior to the plane of the face to a greater extent than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000520","HPO_Synonym__c":"Anterior bulging of the globe; Anterior bulging of the globe of eye; Bulging eye; Exophthalmos; Eyeballs bulging out; Ocular proptosis; Prominent eyes; Prominent globes; Protruding eyes; Protrusio bulbi","HPO_Name__c":"Proptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001265","HPO_Synonym__c":"Decreased reflex response; Decreased reflexes","HPO_Name__c":"Hyporeflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004565","HPO_Synonym__c":"platyspondyly, extreme","HPO_Name__c":"Severe platyspondyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased prominence or roundness of soft tissues between zygomata and mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000293","HPO_Synonym__c":"Apple cheeks; Big cheeks; Full cheeks; Increased size of cheeks; Large cheeks","HPO_Name__c":"Full cheeks","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A severe delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011344","HPO_Synonym__c":"Global developmental delay, severe","HPO_Name__c":"Severe global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002079","HPO_Synonym__c":"Corpus callosum hypoplasia; Hypoplasia of corpus callosum; Hypoplastic corpus callosum; Underdevelopment of part of brain called corpus callosum","HPO_Name__c":"Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000276","HPO_Synonym__c":"Elongation of face; Increased height of face; Increased length of face; Increased vertical dimension of face; Long face; Long facies; Vertical elongation of face; Vertical enlargement of face; Vertical excess of face; Vertical Facial Excess; Vertical hyperplasia of face; Vertical overgrowth of face","HPO_Name__c":"Long face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001276","HPO_Synonym__c":"Hypertonicity; Increased muscle tone","HPO_Name__c":"Hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of cytotoxic CD3+CD8+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005415","HPO_Synonym__c":"CD8+ T-cell lymphopenia; Decreased proportion of CD8+ T cells; Decreased proportion of CD8-positive T cells; Decreased proportion of CD8-positive, alpha-beta T cells","HPO_Name__c":"Decreased CD8+ T cell proportion","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Opisthotonus is defined as a dramatic abnormal posture due to spastic contraction of the extensor muscles of the neck, trunk, and lower extremities that produces a severe backward arching from neck to heel. In most cases, the trunk is elevated off the ground by a few inches. It is usually sudden in onset and can be sustained or repetitive. It can be considered a variant of decerebrate posturing involving a hyperextension of the neck, back, and limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002179","HPO_Synonym__c":"Arc de cercle; Opisthotonos","HPO_Name__c":"Opisthotonus","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in size of the ventricular system of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002119","HPO_Synonym__c":"Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation","HPO_Name__c":"Ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000765","HPO_Synonym__c":"Abnormality of the chest; Abnormality of the thorax; Structural abnormality of the chest wall","HPO_Name__c":"Abnormal thorax morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the ilium, the largest and uppermost bone of the pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002867","HPO_Synonym__c":"Abnormality of the ilium; Iliac abnormalities","HPO_Name__c":"Abnormal ilium morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A smaller than normal acetabulum that has insufficient femoral head coverage leading to abnormal hip joint contact pressures, instability and pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008807","HPO_Synonym__c":"Dysplastic acetabulae","HPO_Name__c":"Acetabular dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002007","HPO_Synonym__c":"Frontal protuberance; Skull bossing","HPO_Name__c":"Frontal bossing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Posterior positioning of the nasal root in relation to the overall facial profile for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005280","HPO_Synonym__c":"Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge","HPO_Name__c":"Depressed nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004894","HPO_Name__c":"Laryngotracheal stenosis","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000160","HPO_Synonym__c":"Microstomia; Narrow mouth; Small mouth; Small oral aperture","HPO_Name__c":"Narrow mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001177","HPO_Synonym__c":"Extra thumb; Polydactyly affecting the thumb; Preaxial polydactyly of hands; Supernumerary thumb; thumb polydactyly","HPO_Name__c":"Preaxial hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004430","HPO_Synonym__c":"Immunodeficiency, severe combined","HPO_Name__c":"Severe combined immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000343","HPO_Synonym__c":"Elongated philtrum; Increased height of philtrum; Increased length of philtrum; Increased vertical dimension of philtrum; Vertical hyperplasia of philtrum","HPO_Name__c":"Long philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased overall level of immunoglobulin E in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003212","HPO_Synonym__c":"Elevated immunoglobulin E; Elevated serum IgE; High immunoglobulin E; Increased circulating IgE level","HPO_Name__c":"Increased circulating IgE concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003196","HPO_Synonym__c":"Decreased length of nose; Hypoplastic nose; Nasal hypoplasia; Short nose; Shortened nose","HPO_Name__c":"Short nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003189","HPO_Synonym__c":"Elongated nose; Increased height of nose; Increased length of nose; Increased nasal height; Increased nasal length; Long nose; Nasal elongation","HPO_Name__c":"Long nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of bones of the arms or legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002813","HPO_Synonym__c":"Abnormal shape of limb bone; Abnormality of limb bone morphology; Arm and/or leg bone differences; Limb abnormality","HPO_Name__c":"Abnormal limb bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005306","HPO_Synonym__c":"Capillary hemangiomata; Strawberry birthmark","HPO_Name__c":"Capillary hemangioma","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased width of the ischium, which forms the lower and back part of the hip bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100865","HPO_Name__c":"Broad ischia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Limb shortening because of underdevelopment of one or more bones of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009826","HPO_Synonym__c":"Hypoplasia involving bones of the extremities; limb shortening; Limb undergrowth; Short limb; Short limbs","HPO_Name__c":"Limb undergrowth","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000960","HPO_Synonym__c":"Pilonidal dimple; 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Abnormality of cervical vertebra; Abnormality of the cervical vertebrae; Cervical spine abnormalities; Cervical vertebral abnormalities; Disorder of cervical vertebra","HPO_Name__c":"Abnormality of the cervical spine","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the dens of the axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003311","HPO_Synonym__c":"Hypoplastic odontoid process; Odontoid hypoplasia; Small odontoid peg; Small odontoid process","HPO_Name__c":"Hypoplasia of the odontoid process","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011166","HPO_Synonym__c":"Focal myoclonic seizures; Local myoclonic seizures; Localised myoclonic seizure; Localized myoclonic seizure; Partial myoclonic seizure; Partial myoclonic seizures; Segmental myoclonic seizure; Segmental myoclonic seizures","HPO_Name__c":"Focal myoclonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005619","HPO_Synonym__c":"Thoracolumbar gibbus; Thoracolumbar gibbus deformity","HPO_Name__c":"Thoracolumbar kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008462","HPO_Name__c":"Cervical instability","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The absolute number of T cells per volume is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005403","HPO_Synonym__c":"Decrease in T cell count; Decrease in T cell number; Decreased numbers of circulating T cells; Low T cell count; Reduced number of T cells; T cell lymphopenia; T lymphocytopenia","HPO_Name__c":"Decreased total T cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased width of the phalanges of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009768","HPO_Synonym__c":"Wide hand bones; Widening of phalanges of the hand","HPO_Name__c":"Broad phalanges of the hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004313","HPO_Synonym__c":"Decreased antibody level in blood; Decreased circulating antibody level; Decreased immunoglobulin level; Decreased serum immunoglobulin; Hypogammaglobulinemia; Immunoglobulin deficiency; Reduced immunoglobulin levels","HPO_Name__c":"Decreased circulating immunoglobulin concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal narrowing of the cervical spinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008445","HPO_Synonym__c":"Narrow cervical spinal canal","HPO_Name__c":"Cervical spinal canal stenosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006532","HPO_Synonym__c":"Multiple pulmonary infections; Pneumonia, recurrent; Pneumonia, recurrent episodes; Pulmonary infection; Pulmonary infections; pulmonary infections, recurrent; Recurrent pneumonia; Recurrent pulmonary infections","HPO_Name__c":"Recurrent pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Complete lack of development of speech and language abilities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001344","HPO_Synonym__c":"Absent speech development; Lack of language development; Lack of speech; No speech development; No speech or language development; Nonverbal","HPO_Name__c":"Absent speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An eye that is more deeply recessed into the plane of the face than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000490","HPO_Synonym__c":"Deep set eye; Deep-set eyes; Deeply set eye; Enophthalmos; Ocular depression; Sunken eye; Sunken eyes","HPO_Name__c":"Deeply set eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000085","HPO_Synonym__c":"Horseshoe kidney; Horseshoe kidneys","HPO_Name__c":"Horseshoe kidney","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000463","HPO_Synonym__c":"Anteverted nose; Anteverted nostrils; Nasal tip, upturned; Nostrils anteverted; Upturned nares; Upturned nasal tip; Upturned nose; Upturned nostrils","HPO_Name__c":"Anteverted nares","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal accentuation of the inward curvature of the spine in the lumbar region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002938","HPO_Synonym__c":"Exaggerated lumbar lordosis; Excessive inward curvature of lower spine; Increased lumbar lordosis; Lumbar lordosis; Prominent lumbar lordosis","HPO_Name__c":"Lumbar hyperlordosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A facial appearance characterized by a permanently or nearly permanently opened mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000194","HPO_Synonym__c":"Gaped jawed appearance; Gaped mouthed appearance; Open mouth; Slack jawed appearance","HPO_Name__c":"Open mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Severe increase in circulating eosinophils, usually characterized as more than 1500 eosinophils per microlitre.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032061","HPO_Synonym__c":"Hypereosinophilia","HPO_Name__c":"Severely increased total eosinophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025336","HPO_Name__c":"Delayed ability to sit","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002341","HPO_Synonym__c":"Cervical cord compression myelopathy","HPO_Name__c":"Cervical cord compression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin G (IgG) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004315","HPO_Synonym__c":"Decreased circulating IgG level; Decreased gamma-globin expression; Decreased IgG level; Decreased IgG level in blood; Decreased immunoglobulin G; Decreased serum IgG; IgG deficiency; Reduced IgG levels","HPO_Name__c":"Decreased circulating IgG concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001830","HPO_Synonym__c":"Extra toe attached near the little toe; Polydactyly affecting the 5th toe; Postaxial polydactyly of feet; Postaxial polydactyly of foot; Posterior polydactyly of foot","HPO_Name__c":"Postaxial foot polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased volume and globular shape of the anteroinferior aspect of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000414","HPO_Synonym__c":"Bulbous nose","HPO_Name__c":"Bulbous nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008936","HPO_Synonym__c":"Low muscle tone in trunk; Muscular hypotonia of the trunk; Truncal hypotonia","HPO_Name__c":"Axial hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally broad metacarpal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001230","HPO_Synonym__c":"Wide long bones of hand; Wide metacarpals","HPO_Name__c":"Broad metacarpals","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045060","HPO_Name__c":"Aplasia/hypoplasia involving bones of the extremities","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030320","HPO_Name__c":"Increased intervertebral space","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skeletal system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000924","HPO_Synonym__c":"Abnormality of the skeletal system; Skeletal abnormalities; Skeletal anomalies","HPO_Name__c":"Abnormality of the skeletal system","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of the distal musculature of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009053","HPO_Synonym__c":"Distal muscle weakness in lower limbs; Muscle weakness, lower limb, distal","HPO_Name__c":"Distal lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Incapability to ambulate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002540","HPO_Synonym__c":"Inability to walk; Non-ambulatory","HPO_Name__c":"Inability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010049","HPO_Synonym__c":"Brachymetacarpalia; Hypoplastic metacarpal; Metacarpal hypoplasia; Short metacarpals; Shortened long bone of hand; Shortened long bones of hand; Shortened metacarpals; Shortening of metacarpals","HPO_Name__c":"Short metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin M (IgM) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002850","HPO_Synonym__c":"Decreased IgM; Decreased IgM level; IgM deficiency; Reduced IgM levels","HPO_Name__c":"Decreased circulating total IgM","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001634","HPO_Name__c":"Mitral valve prolapse","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000280","HPO_Synonym__c":"Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies","HPO_Name__c":"Coarse facial features","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002197","HPO_Synonym__c":"Generalized onset seizure; Generalized seizures; Generalized-onset seizures; Primary generalized seizure","HPO_Name__c":"Generalized-onset seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001363","HPO_Synonym__c":"Cranial suture synostosis; Craniosyostosis; Early fusion of cranial sutures; Premature closure of cranial sutures; Premature suture closure","HPO_Name__c":"Craniosynostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002750","HPO_Synonym__c":"Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation","HPO_Name__c":"Delayed skeletal maturation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of T cell proliferation in response to mitogenic stimuli. This is commonly measured through intracellular expression of Ki67, decreasing surface expression of carboxyfluorescein diacetate (CFSE), or 3H-thymidine incorporation. Length of incubation, specific stimulus and strength of stimulation may vary between laboratories.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031381","HPO_Synonym__c":"Decreased lymphocyte proliferation in response to mitogen; Reduced lymphocyte proliferation to mitogen","HPO_Name__c":"Decreased mitogen-induced T-cell proliferation","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of intentional participation in interactions with another person.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008763","HPO_Synonym__c":"No social interaction","HPO_Name__c":"No social interaction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Short (hypoplastic) phalanx of finger, affecting one or more phalanges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009803","HPO_Synonym__c":"Hypoplastic phalanges; Hypoplastic phalanges of hands; Hypoplastic/small phalanges of the hand; Phalangeal hypoplasia; Rudimentary phalanges; Short finger bones; Short phalanges; Shortened phalanges","HPO_Name__c":"Short phalanx of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003375","HPO_Synonym__c":"Narrow greater sacrosciatic notches; Narrow sacroiliac notch; Narrow sacrosciatic notch; Narrow sciatic notches; Narrowed greater sciatic notch; Narrowed sacrosciatic notch; Small sacrosciatic notch; Small sacrosciatic notches","HPO_Name__c":"Narrow greater sciatic notch","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002996","HPO_Synonym__c":"Decreased elbow mobility; Limited elbow mobility; Limited elbow movement; Restricted elbow motion","HPO_Name__c":"Limited elbow movement","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Trilobar skull configuration when viewed from the front or behind.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002676","HPO_Synonym__c":"Kleeblattschaedel","HPO_Name__c":"Cloverleaf skull","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000212","HPO_Synonym__c":"Gingival enlargement; Gingival hyperplasia; Gum enlargement; Gum hypertrophy; Hypertrophic gingivitis","HPO_Name__c":"Gingival overgrowth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000733","HPO_Synonym__c":"Abnormal repetitive mannerism; Repetitive behavior; Repetitive movements; Repetitive, stereotypic behavior; Stereotyped; Stereotyped behavior; Stereotyped behaviors; Stereotypical motor behavior; Stereotypical motor behaviors; Stimming","HPO_Name__c":"Motor stereotypy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:508533","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032218","HPO_Synonym__c":"CD4 T cell lymphopenia; Decreased helper T cell proportion; Decreased proportion circulating T-helper cells; Decreased proportion of CD4+ cells; Decreased proportion of CD4+ T cells; Decreased proportion of CD4-positive helper T cells; Decreased proportion of CD4-positive T cells; Decreased proportion of CD4-positive, alpha-beta T cells; Reduced helper T cell proportion; Reduced proportion of CD4-positive cells","HPO_Name__c":"Decreased CD4+ T cell proportion","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Immunology","Orthopedics","Neurodevelopmental disabilities","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["extl3 (exostosin like glycosyltransferase 3) related neuro-immuno-skeletal dysplasia syndrome"," extl3-related neuro-immuno-skeletal dysplasia syndrome"," neuro-immuno-skeletal dysplasia syndrome due to extl3 (exostosin like glycosyltransferase 3) deficiency"," neuro-immuno-skeletal dysplasia syndrome due to extl3 deficiency"," skeletal dysplasia, t-cell immunodeficiency, developmental delay syndrome"]}