Phenotype #0000290116

Individual ID 00396961
Associated disease NEDMISBA;MCPH15
Phenotype details no premature death; OFC birth mean -2.5 SDS, OFC mean -3.25 SDS; global developmental delay (2/2); sit (2/2); not walking; severely delayed speech (2/2); intellectual disability (2/2); no behavioral abnormalities; appendicular spasticity, dystonia (2/2); axial hypotonia (2/2); no seizures; no dysphagia; no skeletal abnormalities; MRI WM thinning with ventricular dilatation (2/2)
Diagnosis/Initial microcephaly, hypomyelination
Inheritance Familial, autosomal recessive
Diagnosis/Definite NEDMISBA
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2021-12-17 20:29:38 +01:00 (CET)
Date last edited N/A

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