Global Variome shared LOVD

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Phenotype #0000210669 Individual ID 00276071 Associated disease NEDMISBA;MCPH15 Phenotype details no premature death; OFC 49 cm (-5.0 SDS); global developmental delay; sit; walk; severely delayed speech; severe intellectual disability; aggressive behavior; appendicular spasticity; no axial hypotonia; no seizures; no dysphagia; no skeletal abnormalities; MRI moderate WM thinning with ventricular dilatation, mild simplified gyral pattern, mild corpus callosum hypoplasia, inferior vermian hypoplasia, no pontine hypoplasia Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite NEDMISBA Age/Examination 17y (17 years) 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 16:40:54 +01:00 (CET) Date last edited 2021-12-17 19:47:20 +01:00 (CET)

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