Global Variome shared LOVD

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Phenotype #0000223742 Individual ID 00289341 Associated disease NEDHCAS Diagnosis/Initial glycosylphosphatidylinositol biosynthesis defect Diagnosis/Definite - Phenotype details hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; no movement disorder; epilepsy/seizures; dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; teeth anomalies; no hand/no foot anomalies; no skeletal findings Inheritance Familial, autosomal recessive Age/Examination - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-04-04 12:37:55 +02:00 (CEST) Date last edited N/A

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