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
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)

Global Variome shared LOVD