Phenotype #0000258187

Individual ID	00362817
Associated disease	WARBM
Diagnosis/Initial	Warburg Micro syndrome
Diagnosis/Definite	WARBM3
Phenotype details	postnatal growth retardation; postnatal microcephaly; severe developmental delay/mental retardation, 8w-smiled, 1y-sit with support; severe axial hypotonia; not walking; increased lower limb tone with brisk reflexes, crossed adductors and tight tendon achilles few voluntary lower limb movements, upper limbs normal tone and reflexes; speech babbling, no words; no seizures; MRI brain bilateral frontal polymicrogyria, corpus callosum thin but completely formed, no other structural abnormalities; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; ERG normal; slight response to bright light (has not had cataract removal)
Inheritance	Familial, autosomal recessive
Age/Examination	21m
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