Phenotype #0000258551

Individual ID 00363185
Associated disease WARBM
Diagnosis/Initial Warburg Micro Syndrome
Diagnosis/Definite WARBM1
Phenotype details microcephaly; micro-opthalmia; micro-cornia; bilateral, congenital cataracts; persistently constricted pupils; wide nasal bridge ; hypertrichosis only on forehead; micropenis, cryptoorchidism; profound mental retardation; unable to sit unsupported, reacts to sound; hallux valgus; MRI brain bilateral frontal polymicrogyria, corpus callosum hypogenesis, cerebellar vermis hypoplasia, megacisterna; no seizures; failure to thrive, oral/pharyngeal dysphagia (peg feeding), umbilical hernia
Inheritance Familial, autosomal recessive
Age/Examination 5y7m (5 years, 7 months)
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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