Phenotype #0000223741

Individual ID 00289340
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; no dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; no gastrointestinal anomalies; no teeth anomalies; no hand/no foot anomalies; no skeletal findings; no low serum alkaline phosphatase
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 InternationalCreative Commons License
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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