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 InternationalCreative Commons License
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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