{"Name":"Aprosencephaly cerebellar dysgenesis","DiseaseID__c":"GARD:0004518","id":4518,"encodedName":"aprosencephaly-cerebellar-dysgenesis","IsDeleted":false,"Disease_Name_Full__c":"Aprosencephaly cerebellar dysgenesis","Xref_IDs__c":"1237366005; C1832412; C563331; MEDGEN:330459; MONDO:0011062; OMIM:601374; ORPHA:1126","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:1126","Disease_Description__c":"A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.","GARD_Name__c":"Aprosencephaly cerebellar dysgenesis","GARD_Synonym__c":"aprosencephaly and cerebellar dysgenesis","Curated_Disease_Description_Source__c":"ORPHA:1126","Curated_Disease_Description__c":"A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:1126","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011062","ORPHANET_ID__c":"ORPHA:1126","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aprosencefalia - disgenesia cerebelosa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"aprosencefalia - disgenesia cerebelosa","Spanish_GARD_Synonym__c":null,"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":"A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition.","Curated_Disease_Description_Source__c":"ORPHA:1126","GARD_Synonym__c":"aprosencephaly and cerebellar dysgenesis","Name":"Aprosencephaly cerebellar dysgenesis","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":"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":"Antenatal","Provided_By__c":"ORPHA:1126"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832412","Source__c":"C1832412","Xref__c":"C1832412"},{"URL__c":"https://www.orpha.net/en/disease/detail/1126","Source__c":"C1832412; MONDO:0011062; ORPHA:1126","Xref__c":"ORPHA:1126"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=330459","Source__c":"C1832412","Xref__c":"MEDGEN:330459"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563331","Source__c":"MONDO:0011062","Xref__c":"C563331"},{"URL__c":"https://www.omim.org/entry/601374","Source__c":"C1832412; MONDO:0011062; ORPHA:1126","Xref__c":"OMIM:601374"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011062","Source__c":"GARD:0004518","Xref__c":"MONDO:0011062"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1237366005","Source__c":"C1832412","Xref__c":"1237366005"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601374","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601374","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:601374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Agenesis of the midbrain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007265","HPO_Name__c":"Absent mesencephalon","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A morphological abnormality of the metencephalon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007027","HPO_Name__c":"Poorly formed metencephalon","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal growth and differentiation, structure and appearance of the retina present from birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007973","HPO_Synonym__c":"Dysplasia/hypoplasia of the retina; Retinal dysgenesis","HPO_Name__c":"Retinal dysplasia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601374","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Uvula separated into two parts most easily seen at the tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000193","HPO_Synonym__c":"Bifid palatine uvula; Cleft of uvula; Cleft uvula; Forked uvula; Split uvula; Uvula bifida","HPO_Name__c":"Bifid uvula","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601374","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:601374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007033","HPO_Name__c":"Cerebellar dysplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601374","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007268","HPO_Name__c":"Aprosencephaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["aprosencephaly and cerebellar dysgenesis"]}