Phenotype #0000258548

Individual ID 00363182
Associated disease WARBM
Diagnosis/Initial Warburg Micro Syndrome
Diagnosis/Definite WARBM1
Phenotype details microcephaly; micro-opthalmia; micro-cornia; bilateral, congenital cataracts, operatively removed at age 5m; glaucoma, bilateral optic atrophy; hypotelorism, low insertion of columella and/or short philtrum, thin lips with tented mouth; no hypertrichosis; hypogonadism, micropenis; severe mental retardation; severe muscle hypotonia, quadriplegic; small hands and feet, brachydactyly of feet; MRI brain bilateral frontal polymicrogyria, copus callosum hypoplasia, cerebellar vermis hypoplasia; no seizures; accessory nipple on right chest, single palmar crease
Inheritance Familial, autosomal recessive
Age/Examination 7y (7 years)
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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