Phenotype #0000258550

Individual ID	00363184
Associated disease	WARBM
Diagnosis/Initial	Warburg Micro Syndrome
Diagnosis/Definite	WARBM1
Phenotype details	microcephaly; micro-opthalmia; micro-cornia; white membrane, no lens; persistently constricted pupils; optic nerve hypoplasia, retinal changes; mild hypertelorism, deep-set eyes; no hypertrichosis; severe mental retardation; initially hypotonic, 15m-global developmental delay, unable to sit, poor head control, few voluntary movements; hyper-extended first toe both feet; MRI brain bilateral frontal polymicrogyria, corpus callosum hypogenesis, delayed myelinisation; 2-3m-seizures treated with oxcarbazepin, now seizure-free ; initial failure to thrive
Inheritance	Familial, autosomal recessive
Age/Examination	3y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-04-25 12:00:25 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD