{"Name":"SRD5A3-congenital disorder of glycosylation","DiseaseID__c":"GARD:0012397","id":12397,"encodedName":"srd5a3-congenital-disorder-of-glycosylation","IsDeleted":false,"Disease_Name_Full__c":"SRD5A3-congenital disorder of glycosylation","Xref_IDs__c":"733601006; C4317224; DOID:0080568; MEDGEN:1392124; MONDO:0012885; OMIM:612379; ORPHA:324737","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012885","Disease_Description__c":"SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.","GARD_Name__c":"SRD5A3-congenital disorder of glycosylation","GARD_Synonym__c":"cdg iq; cdg syndrome type iq; cdg-iq; cdg1q; coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities; congenital disorder of glycosylation type 1q; congenital disorder of glycosylation type iq; ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities; srd5a3-cdg; srd5a3-cdg - steroid 5 alpha-reductase 3 congenital disorder of glycosylation; srd5a3-cdg (cdg-iq)","Curated_Disease_Description_Source__c":"MONDO:0012885","Curated_Disease_Description__c":"SRD5A3-congenital disorder of glycosylation (SRD5A3-CDG, formerly known as congenital disorder of glycosylation type Iq) is an inherited condition that causes neurological and vision problems and other signs and symptoms. The pattern and severity of this conditions features vary widely among affected individuals.  Individuals with SRD5A3-CDG typically develop signs and symptoms of the condition during infancy or early childhood. Most individuals with SRD5A3-CDG have intellectual disability, vision problems, unusual facial features,low muscle tone (hypotonia), and problems with coordination and balance (ataxia).   Vision problems in SRD5A3-CDG often include involuntary side-side movements of the eyes (nystagmus), a gap or hole in one of the structures of the eye (coloboma), underdevelopment of the nerves that carry signals between the eyes and the brain(optic nerve hypoplasia), or vision loss early in life (early-onset severe retinal dystrophy). Over time, affected individuals may develop clouding of the lenses of the eyes (cataracts) or increased pressure in the eyes (glaucoma).  Other features of SRD5A3-CDG can include skin rash, unusually small red blood cells (microcytic anemia),and liver problems.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:324737","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012885","ORPHANET_ID__c":"ORPHA:324737","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Srd5a3-cdg","Spanish_Description_Source__c":"ORPHA:324737","Spanish_Description__c":"El SRD5A3-CDG es un trastorno congénito poco frecuente de la glicosilación no ligado al X debido a la deficiencia de esteroide 5-alfa reductasa tipo 3. Se caracteriza por un fenotipo altamente variable, presentándose típicamente con discapacidad visual grave, anomalías oculares variables (tales como hipoplasia/atrofia del nervio óptico, coloboma del nervio óptico y del iris, catarata congénita, glaucoma), discapacidad intelectual, anomalías cerebelosas, nistagmo, hipotonía, ataxia, y/o lesiones cutáneas ictiosiformes. Otras manifestaciones descritas incluyen retinosis pigmentaria, cifosis, defectos cardíacos congénitos, hipertricosis y coagulación anómala.","Spanish_Disease_Name__c":"srd5a3-cdg","Spanish_GARD_Synonym__c":"cdg-iq; cdg1q; síndrome cdg tipo iq; trastorno congénito de la glicosilación tipo 1q; trastorno congénito de la glicosilación tipo iq","Category_Linearization__c":"ORPHA:68367","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":"SRD5A3-congenital disorder of glycosylation (SRD5A3-CDG, formerly known as congenital disorder of glycosylation type Iq) is an inherited condition that causes neurological and vision problems and other signs and symptoms. The pattern and severity of this conditions features vary widely among affected individuals.  Individuals with SRD5A3-CDG typically develop signs and symptoms of the condition during infancy or early childhood. Most individuals with SRD5A3-CDG have intellectual disability, vision problems, unusual facial features,low muscle tone (hypotonia), and problems with coordination and balance (ataxia).   Vision problems in SRD5A3-CDG often include involuntary side-side movements of the eyes (nystagmus), a gap or hole in one of the structures of the eye (coloboma), underdevelopment of the nerves that carry signals between the eyes and the brain(optic nerve hypoplasia), or vision loss early in life (early-onset severe retinal dystrophy). Over time, affected individuals may develop clouding of the lenses of the eyes (cataracts) or increased pressure in the eyes (glaucoma).  Other features of SRD5A3-CDG can include skin rash, unusually small red blood cells (microcytic anemia),and liver problems.","Curated_Disease_Description_Source__c":"MONDO:0012885","GARD_Synonym__c":"cdg iq; cdg syndrome type iq; cdg-iq; cdg1q; coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities; congenital disorder of glycosylation type 1q; congenital disorder of glycosylation type iq; ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities; srd5a3-cdg; srd5a3-cdg - steroid 5 alpha-reductase 3 congenital disorder of glycosylation; srd5a3-cdg (cdg-iq)","Name":"SRD5A3-congenital disorder of glycosylation","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"CDG & Allies - PPAIN","Website__c":"https://worldcdg.org/hashtags/cdg-allies-ppain"},{"Account_Name__c":"CDG CARE","Website__c":"https://cdgcare.org/"},{"Account_Name__c":"Cure SRD5A3","Website__c":"https://curesrd5a3.com/"},{"Account_Name__c":"CDG Canada","Website__c":"https://canadacdg.com/"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"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":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"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":"Infancy","Provided_By__c":"ORPHA:324737"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:324737"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2675185"},{"Type__c":"GTR","Curie__c":"MEDGEN:C4317224"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012397","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1332","Source__c":"Gene Review","Xref__c":"NBK1332"},{"URL__c":"https://www.orpha.net/en/disease/detail/324737","Source__c":"C4317224; MONDO:0012885; ORPHA:324737","Xref__c":"ORPHA:324737"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1392124","Source__c":"C4317224","Xref__c":"MEDGEN:1392124"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080568","Source__c":"MONDO:0012885","Xref__c":"DOID:0080568"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4317224","Source__c":"C4317224","Xref__c":"C4317224"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=733601006","Source__c":"C4317224; MONDO:0012885","Xref__c":"733601006"},{"URL__c":"https://www.omim.org/entry/612379","Source__c":"C4317224; MONDO:0012885; ORPHA:324737","Xref__c":"OMIM:612379"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012885","Source__c":"GARD:0012397","Xref__c":"MONDO:0012885"},{"URL__c":"https://medlineplus.gov/genetics/condition/srd5a3-congenital-disorder-of-glycosylation"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SRD5A3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/srd5a3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormality of the hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001595","HPO_Synonym__c":"Abnormality of the hair; Hair abnormality","HPO_Name__c":"Abnormal hair morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008064","HPO_Synonym__c":"Ichthyosiform abnormality of the skin; Ichthyotic skin","HPO_Name__c":"Ichthyosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Frequent (30-79%)","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:324737","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Very frequent (80-99%)","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:324737","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000982","HPO_Synonym__c":"Keratoderma; Palmar and plantar keratoderma; Thickening of palms and soles","HPO_Name__c":"Palmoplantar keratoderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005585","HPO_Synonym__c":"Patchy hyperpigmentation; Spotty increased pigmentation","HPO_Name__c":"Spotty hyperpigmentation","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000824","HPO_Name__c":"Decreased response to growth hormone stimulation test","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001317","HPO_Synonym__c":"Abnormality of the cerebellum; Cerebellar abnormalities; Cerebellar abnormality; Cerebellar anomaly; Cerebellar signs","HPO_Name__c":"Abnormal cerebellum morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","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:324737","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001928","HPO_Synonym__c":"Abnormal blood coagulation studies; Coagulation abnormalities; Coagulation abnormality; Haemorrhagic disorders","HPO_Name__c":"Abnormality of coagulation","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000589","HPO_Synonym__c":"Notched pupil; Ocular coloboma; Ocular colobomas","HPO_Name__c":"Coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A kind of anemia in which the volume of the red blood cells is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001935","HPO_Name__c":"Microcytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000510","HPO_Synonym__c":"Retinitis pigmentosa; Rod cone dystrophy","HPO_Name__c":"Rod-cone dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Occasional (5-29%)","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:324737","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the vermis of cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002334","HPO_Synonym__c":"Abnormality of the cerebellar vermis","HPO_Name__c":"Abnormal cerebellar vermis morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003642","HPO_Synonym__c":"Abnormal isoelectric focusing of serum transferrin, type I pattern; Isoelectric focusing of serum transferrin consistent with CDG type I; Type 1 transferrin isoform profile","HPO_Name__c":"Type I transferrin isoform profile","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:324737","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:324737","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the sacral bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005107","HPO_Synonym__c":"Abnormality of the sacrum","HPO_Name__c":"Abnormal sacrum morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Deficiency of thyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000821","HPO_Synonym__c":"Low T4; Underactive thyroid","HPO_Name__c":"Hypothyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","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:324737","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of coagulation related to a decreased concentration of antithrombin-III.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001976","HPO_Synonym__c":"Anti-thrombin III deficiency; Antithrombin III deficiency; Decreased antithrombin III","HPO_Name__c":"Reduced antithrombin III activity","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012443","HPO_Synonym__c":"Abnormal shape of brain; Abnormality of brain morphology; Abnormality of the brain","HPO_Name__c":"Abnormal brain morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007766","HPO_Name__c":"Optic disc hypoplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"The absence of six or more teeth from the normal series by a failure to develop.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000677","HPO_Synonym__c":"Failure of development of more than six teeth; Partial anodontia","HPO_Name__c":"Oligodontia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008947","HPO_Synonym__c":"Decreased muscle tone in infant; Hypotonia early; Hypotonia in infancy; Hypotonia, early; Infantile hypotonia; Infantile muscular hypotonia","HPO_Name__c":"Floppy infant","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001272","HPO_Synonym__c":"Atrophic cerebellum; Degeneration of cerebellum","HPO_Name__c":"Cerebellar atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:324737","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002910","HPO_Synonym__c":"Abnormal liver enzymes; Abnormal liver function; Abnormal liver function tests; Elevated circulating hepatic transaminase activity; Elevated liver enzymes; Elevated serum transaminases; Elevated transaminases; High liver enzymes; Increased liver enzymes; Increased liver function tests; Increased transaminases; Raised liver enzymes; Subclinical abnormal liver function tests","HPO_Name__c":"Elevated circulating hepatic transaminase concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Dermatology","Inborn Errors of Metabolism","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Dermatology","Neuro-Ophthalmology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Dermatology"]},"synonyms":["cdg iq"," cdg syndrome type iq"," cdg-iq"," cdg1q"," coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities"," congenital disorder of glycosylation type 1q"," congenital disorder of glycosylation type iq"," ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities"," srd5a3-cdg"," srd5a3-cdg - steroid 5 alpha-reductase 3 congenital disorder of glycosylation"," srd5a3-cdg (cdg-iq)"]}