Global Variome shared LOVD

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Phenotype #0000258536 Individual ID 00363170 Associated disease WARBM Diagnosis/Initial Warburg Micro Syndrome Diagnosis/Definite WARBM1 Phenotype details intra-uterine growth retardation; no postnatal growth retardation; birth OFC 25th centile; postnatal microcephaly; no seizures; EEG normal; severe developmental delay; truncal hypotonia; spastic cerebral palsy; no congenital contractures; no speech; not walking; no feeding difficulties; CT brain bilateral frontal pachygyria; microphthalmia; congenital dense central cataracts; small atonic pupils; blind or light perception only; ptosis; deep set eyes; brachycephaly; beaked nose/prominent root nose; hirsuitism; low frontal hairline; large anteverted ears; no genital abnormalities 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 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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