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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-04-25 12:00:25 +02:00 (CEST)
Date last edited N/A

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