Phenotype #0000258193

Individual ID	00362823
Associated disease	WARBM
Diagnosis/Initial	Warburg Micro syndrome
Diagnosis/Definite	WARBM3
Phenotype details	9y8m-deceased; postnatal growth retardation; postnatal microcephaly; 5m-smiling cooing, complete head lag when pulled to sitting, no head control; severe axial hypotonia; not walking; 1y-progressive lower limb spasticity, 8y-upper limb spasticity, 9y-profound mental retardation, wheelchair bound with spastic quadriplegia, contractures with flexed wrists and fisted hands; no seizures; MRI brain 4w-unmyelinated white matter, normal for age, corpus callosum normal, polymicrogyria right perisylvian region; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; optic nerve atrophy; ERG normal; cortically blind with absent VEP despite early cataract surgery; no hypogonadism
Inheritance	Familial, autosomal recessive
Age/Examination	9y5m (9 years, 5 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-04-23 16:48:55 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD