Global Variome shared LOVD

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Phenotype #0000210670 Individual ID 00276074 Associated disease NEDMISBA;MCPH15 Phenotype details no premature death; OFC 46 cm (-3.6 SDS); global developmental delay; sit; not walking; no speech; severe intellectual disability; no behavioral abnormalities; no appendicular spasticity; axial hypotonia; seizures; dysphagia; no skeletal abnormalities; MRI mild 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 05y (5 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 17:00:09 +01:00 (CET) Date last edited 2021-12-17 19:41:38 +01:00 (CET)

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