Phenotype #0000258189

Individual ID 00362819
Associated disease WARBM
Diagnosis/Initial Warburg Micro syndrome
Diagnosis/Definite WARBM3
Phenotype details postnatal growth retardation; postnatal microcephaly; profound developmental delay/mental retardation, 8w-smiled, hypotonic, 11m-sit with support, never pulled to stand or crawled, reacts to sound; severe axial hypotonia; not walking; profound mental retardation with spastic quadriplegia and contractures; no speech; no seizures; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; optic nerve atrophy; ERG normal; cortically blind with absent VEP despite early cataract surgery; no hypogonadism
Inheritance Familial, autosomal recessive
Age/Examination -
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 2021-04-23 16:48:55 +02:00 (CEST)
Date last edited N/A

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