Phenotype #0000210667

Individual ID 00276067
Associated disease NEDMISBA;MCPH15
Phenotype details no premature death; OFC birth 28 cm (-4.6 SDS), OFC 41 cm (-5.6 SDS); global developmental delay; not sitting; not walking; no speech; no behavioral abnormalities; appendicular spasticity; axial hypotonia; seizures; dysphagia; talipes equinovarus; 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 NEDMISBA
Age/Examination 04y (4 years)
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 16:16:03 +01:00 (CET)
Date last edited 2021-12-17 19:56:52 +01:00 (CET)

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