Phenotype #0000258546

Individual ID	00363180
Associated disease	WARBM
Diagnosis/Initial	Warburg Micro Syndrome
Diagnosis/Definite	WARBM1
Phenotype details	microcephaly; micro-opthalmia; micro-cornia; bilateral congenital cataracts; persistently constricted pupils; bitemporal hollowing, small mouth, retrognathia, high arched palate, low set ears; hypertrichosis, particularly on back; genital hypoplasia: hypoplastic labia maiora; severe developmental delay; severe axial hypotonia and peripheral hypertonia, marked rigidity of the hips and knees; osteopenic aspect skeleton, bilateral coxa valga; MRI brain bilateral frontal polymicrogyria, corpus callosum hypogenesis, cerebellar vermis hypoplasia, wide sylvian fissures, delayed myelinisation; no seizures; failure to thrive, feeding difficulties (all liquids are thickened and food has to be blended), widely-spaced nipples,
Inheritance	Familial, autosomal recessive
Age/Examination	18m
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