Global Variome shared LOVD

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Phenotype #0000222963 Individual ID 00289333 Associated disease NEDHCAS Diagnosis/Initial - Diagnosis/Definite - Phenotype details hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; movement disorder; epilepsy/seizures; dysmorphisms; ophthalmological anomalies; genito-urinary malformation; no gastrointestinal anomalies; teeth anomalies; hand/foot anomalies; no skeletal findings; no low serum alkaline phosphatase Inheritance Familial, autosomal recessive Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2020-03-03 23:15:39 +01:00 (CET) Date last edited 2020-04-04 12:34:46 +02:00 (CEST)

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