{"Name":"Hydrocephaly-cerebellar agenesis syndrome","DiseaseID__c":"GARD:0001200","id":1200,"encodedName":"hydrocephaly-cerebellar-agenesis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hydrocephaly-cerebellar agenesis syndrome","Xref_IDs__c":"C1844005; C564407; MEDGEN:375335; MONDO:0010612; OMIM:307010; ORPHA:1397","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010612","Disease_Description__c":"A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978.","GARD_Name__c":"Hydrocephaly-cerebellar agenesis syndrome","GARD_Synonym__c":"hydrocephalus with cerebellar agenesis; x-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome","Curated_Disease_Description_Source__c":"MONDO:0010612","Curated_Disease_Description__c":"A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1397","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010612","ORPHANET_ID__c":"ORPHA:1397","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hidrocefalia-agenesia cerebelosa","Spanish_Description_Source__c":"ORPHA:1397","Spanish_Description__c":"Es un síndrome malformativo poco frecuente por defectos del desarrollo embrionario caracterizado por hidrocefalia congénita no comunicante, agenesia cerebelosa y ausencia de los forámenes de Luschka y Magendie. Los pacientes se presentan con hipotonía, arreflexia o hiporreflexia, crisis epilépticas y/o cianosis poco después del nacimiento, siendo letal en el período neonatal. No ha habido más casos descritos en la literatura desde 1978.","Spanish_Disease_Name__c":"síndrome de hidrocefalia-agenesia 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 developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978.","Curated_Disease_Description_Source__c":"MONDO:0010612","GARD_Synonym__c":"hydrocephalus with cerebellar agenesis; x-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome","Name":"Hydrocephaly-cerebellar agenesis 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":"Ophthalmology","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1397"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/307010","Source__c":"C1844005; MONDO:0010612","Xref__c":"OMIM:307010"},{"URL__c":"https://www.orpha.net/en/disease/detail/1397","Source__c":"C1844005; MONDO:0010612","Xref__c":"ORPHA:1397"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1844005","Source__c":"C1844005","Xref__c":"C1844005"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=375335","Source__c":"C1844005","Xref__c":"MEDGEN:375335"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564407","Source__c":"MONDO:0010612","Xref__c":"C564407"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010612","Source__c":"GARD:0001200","Xref__c":"MONDO:0010612"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1397","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:1397","HPO_Frequency__c":"Very frequent (80-99%)","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:1397","HPO_Frequency__c":"Very frequent (80-99%)","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:1397","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012642","HPO_Name__c":"Cerebellar agenesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1397","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Pediatrics"]},"synonyms":["hydrocephalus with cerebellar agenesis"," x-linked hydrocephalus-cerebellar agenesis-intellectual disability syndrome"]}