Phenotype #0000223736

Individual ID	00289335
Associated disease	NEDHCAS
Diagnosis/Initial	glycosylphosphatidylinositol biosynthesis defect
Diagnosis/Definite	-
Phenotype details	hypotonia; developmental disability and/or intellectual disability; cerebellar atrophy; ataxia; no epilepsy/no seizures; dysmorphisms; ophthalmological anomalies; no genito-urinary malformation; gastrointestinal anomalies including gastroesophageal reflux disease; 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
Created by	Johan den Dunnen
Date created	2020-04-04 12:37:55 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD