{"Name":"Chromosome 10q23 deletion syndrome","DiseaseID__c":"GARD:0017280","id":17280,"encodedName":"chromosome-10q23-deletion-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Chromosome 10q23 deletion syndrome","Xref_IDs__c":"C4225669; C567385; DOID:0060389; MEDGEN:906099; MONDO:0012830; OMIM:612242; ORPHA:276413","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012830","Disease_Description__c":"10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.","GARD_Name__c":"Chromosome 10q23 deletion syndrome","GARD_Synonym__c":"10q22.3q23.3 microdeletion syndrome; chromosome 10q22.3-q23.2 deletion syndrome; del(10)(q22.3q23.3); deletion 10q22.3q23.3; monosomy 10q22.3q23.3","Curated_Disease_Description_Source__c":"MONDO:0012830","Curated_Disease_Description__c":"10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:276413","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012830","ORPHANET_ID__c":"ORPHA:276413","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microdeleción 10q22.3q23.3","Spanish_Description_Source__c":"ORPHA:276413","Spanish_Description__c":"Es una monosomía autosómica parcial poco frecuente, caracterizada por leve dismorfia facial que incluye macrocefalia, frente ancha, hiper- o hipotelorismo, ojos hundidos, fisuras palpebrales inclinadas hacia arriba o hacia abajo, orejas de implantación baja, puente nasal plano, surco nasolabial liso, labio superior delgado, paladar hendido, malformaciones cerebelosas y cardíacas, retraso del desarrollo psicomotor y trastornos de conducta (trastorno por déficit de atención con hiperactividad, autismo). Otras características poco frecuentes incluyen aplasia congénita de las mamas, aracnodactilia, hiperlaxitud articular, pie equinovaro, dificultades en la alimentación y fallo de medro.","Spanish_Disease_Name__c":"síndrome de microdeleción 10q22.3q23.3","Spanish_GARD_Synonym__c":"del(10)(q22.3q23.3); deleción 10q22.3q23.3; monosomía 10q22.3q23.3","Category_Linearization__c":"ORPHA:93890","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":"10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.","Curated_Disease_Description_Source__c":"MONDO:0012830","GARD_Synonym__c":"10q22.3q23.3 microdeletion syndrome; chromosome 10q22.3-q23.2 deletion syndrome; del(10)(q22.3q23.3); deletion 10q22.3q23.3; monosomy 10q22.3q23.3","Name":"Chromosome 10q23 deletion syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"},{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:276413"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:276413"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060389","Source__c":"MONDO:0012830","Xref__c":"DOID:0060389"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225669","Source__c":"C4225669","Xref__c":"C4225669"},{"URL__c":"https://www.orpha.net/en/disease/detail/276413","Source__c":"C4225669; MONDO:0012830","Xref__c":"ORPHA:276413"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=906099","Source__c":"C4225669","Xref__c":"MEDGEN:906099"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567385","Source__c":"MONDO:0012830","Xref__c":"C567385"},{"URL__c":"https://www.omim.org/entry/612242","Source__c":"C4225669; MONDO:0012830; ORPHA:276413","Xref__c":"OMIM:612242"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012830","Source__c":"GARD:0017280","Xref__c":"MONDO:0012830"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:276413","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deviation from the normal straight form of the middle phalanx of the fourth toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100444","HPO_Synonym__c":"Curved middle bone of 4th toe","HPO_Name__c":"Curved middle phalanx of the 4th toe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","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:276413","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001883","HPO_Name__c":"Talipes","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A defect of the atrioventricular septum of the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006695","HPO_Synonym__c":"Atrioventricular septal defect; Endocardial cushion defect","HPO_Name__c":"Atrioventricular canal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007018","HPO_Synonym__c":"ADHD; Attention deficit; Attention deficit disorder; Attention deficit-hyperactivity disorder; Attention deficits; Childhood attention deficit/hyperactivity disorder","HPO_Name__c":"Attention deficit hyperactivity disorder","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000286","HPO_Synonym__c":"Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds","HPO_Name__c":"Epicanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001704","HPO_Name__c":"Tricuspid valve prolapse","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","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:276413","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:276413","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations below the mean.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000494","HPO_Synonym__c":"Antimongoloid eye slant; Antimongoloid slant of palpebral fissures; Antimongoloid slanted palpebral fissures; Down slanting palpebral fissures; Down-slanted palpebral fissures; Down-slanting palpebral fissure; Down-slanting palpebral fissures; Downslanting palpebral fissure; Downslanting palpebral fissures; Downward slanted palpebral fissures; Downward slanting of the opening between the eyelids; Downward slanting palpebral fissures; Downward-slanting palpebral fissures; Palpebral fissures down-slanted","HPO_Name__c":"Downslanted palpebral fissures","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","HPO_Frequency__c":"Occasional (5-29%)","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:276413","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002308","HPO_Synonym__c":"Arnold-Chiari malformation; Cerebellar tonsillar ectopia","HPO_Name__c":"Chiari malformation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","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:276413","HPO_Frequency__c":"Occasional (5-29%)","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:276413","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000582","HPO_Synonym__c":"Mongoloid slant; Upslanting palpebral fissures; Upward slanted palpebral fissures; Upward slanting of palpebral fissures; Upward slanting of the opening between the eyelids; Upward slanting palpebral fissures","HPO_Name__c":"Upslanted palpebral fissure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of multiple polyps in the intestine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200008","HPO_Synonym__c":"Multiple intestinal polyps","HPO_Name__c":"Intestinal polyposis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","HPO_Frequency__c":"Frequent (30-79%)","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:276413","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001321","HPO_Synonym__c":"Congenital cerebellar hypoplasia; Hypoplasia of cerebellum; Hypoplastic cerebellum; Small cerebellum; Underdeveloped cerebellum","HPO_Name__c":"Cerebellar hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002463","HPO_Synonym__c":"Language disorder","HPO_Name__c":"Language impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormally long and slender fingers (spider fingers).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001166","HPO_Synonym__c":"Long slender fingers; Long, slender fingers; Spider fingers","HPO_Name__c":"Arachnodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000717","HPO_Synonym__c":"Autism","HPO_Name__c":"Autism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure to develop and congenital absence of the breast.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100783","HPO_Synonym__c":"Absent breast; Congenital absence of breast; Mammary gland aplasia","HPO_Name__c":"Breast aplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000308","HPO_Synonym__c":"Retromicrognathia; Small retruded chin","HPO_Name__c":"Microretrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276413","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000601","HPO_Synonym__c":"Abnormally close eyes; Closely spaced eyes; Decreased distance between eye sockets; Decreased distance between eyes; Decreased interpupillary distance; Decreased orbital separation; Ocular hypotelorism","HPO_Name__c":"Hypotelorism","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["10q22.3q23.3 microdeletion syndrome"," chromosome 10q22.3-q23.2 deletion syndrome"," del(10)(q22.3q23.3)"," deletion 10q22.3q23.3"," monosomy 10q22.3q23.3"]}