Phenotype #0000258531

Individual ID 00363165
Associated disease WARBM
Diagnosis/Initial Warburg Micro syndrome
Diagnosis/Definite WARBM2
Phenotype details see paper; ..., normal length, normal weight at birth; postnatal microcephaly, postnatal growth retardation; hypotonia; 21m-no limb spasticity; severe developmental delay, severe mental retardation; 21m-no speech; 21m-not walking; congenital cataracts; microphthalmia; no optic atrophy; ERG normal, absent visually evoked potentials; large ears; 21m-no kyphoscoliosis; hypoplastic corpus callosum; abnormal gyration; 21m- no seizures
Inheritance Familial, autosomal recessive
Age/Examination 00y21m (21 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 2021-04-24 18:42:02 +02:00 (CEST)
Date last edited N/A

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