Phenotype #0000258194

Individual ID	00362824
Associated disease	WARBM
Diagnosis/Initial	Warburg Micro syndrome
Diagnosis/Definite	WARBM3
Phenotype details	postnatal growth retardation; postnatal microcephaly; severe developmental delay/mental retardation, 8w-smiling; 9m-hypotonic, sat with support, head lag, brief palmar grasp, never crawled or pulled to stand; severe axial hypotonia; not walking; 1y-lower limb spasticit, brisk lower limb reflexes; no speech; no seizures; MRI brain 2y-bilateral frontal polymicrogyria, corpus callosum thin especially posteriorly; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; ERG normal; slight response to bright light (has not had cataract removal); no hypogonadism
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	2021-04-23 16:48:55 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD