Global Variome shared LOVD

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Phenotype #0000210674 Individual ID 00276077 Associated disease NEDMISBA;MCPH15 Phenotype details no premature death; OFC birth 30.5 cm (-2.4 SDS), OFC 36 cm (-3.9 SDS); global developmental delay; sit; not walking; no speech; severe intellectual disability; no behavioral abnormalities; appendicular spasticity; no axial hypotonia; seizures; dysphagia; talipes equinovarus, bilateral developmental dysplasia hip; MRI severe WM thinning with ventricular dilatation, severe simplified gyral pattern, severe corpus callosum hypoplasia, inferior vermian hypoplasia, pontine hypoplasia Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 00y04m (4 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Marcello Scala Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Marcello Scala Date created 2020-01-24 17:18:40 +01:00 (CET) Date last edited 2021-12-17 19:33:05 +01:00 (CET)

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