Global Variome shared LOVD

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Phenotype #0000258547 Individual ID 00363181 Associated disease WARBM Diagnosis/Initial Warburg Micro Syndrome Diagnosis/Definite WARBM1 Phenotype details microcephaly; micro-opthalmia; micro-cornia; bilateral congenital cataracts; persistently constricted pupils; sees only light and dark, despite cataract removal, lenses missing, severe strabismus and nystagmus; wide nasal bridge, large malformed, low set ears; hypertrichosis; micropenis, cryptorchidism; severe mental retardation; muscle hypotonia, spastic quadriplegia, contractures, particularly affecting the knee joint, ; overlapping toes; MRI brain bilateral frontal polymicrogyria, corpus callosum hypogenesis, defective myelinisation; no seizures; can only take in liquids and liquidized foods. cardiac ventricle-septal defect, incomplete 4-finger fold Inheritance Familial, autosomal recessive Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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