Phenotype #0000258552

Individual ID	00363186
Associated disease	WARBM
Diagnosis/Initial	Warburg Micro Syndrome
Diagnosis/Definite	WARBM1
Phenotype details	microcephaly; micro-opthalmia; micro-cornia; bilateral, congenital cataracts with synechiae to the capsule; persistently constricted pupils; no normal lenses; wide nasal bridge, deep philtrum, anteverted nares ; no hypertrichosis; no hypogonadism; profound developmental delay; 10m-no roll, head lag on pull to sit, does not hold objects, coos, reacts to sound; MRI brain bilateral frontal polymicrogyria, corpus callosum hypogenesis; no seizures
Inheritance	Familial, autosomal recessive
Age/Examination	1y (1 year)
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