Phenotype #0000105065

Individual ID 00132281
Associated disease MCPH5
Phenotype details OFC (SD-10.8), length (SD-3.9), weight (SD-3.1); <18m-no walk; no epilepsy; MRI brain 4.3y-thick frontal gyri, gyral simplification; thick corpus callosum; extensive bilateral posterior polymicrogyria; spastic tetraplegia
Diagnosis/Initial microcephaly
Inheritance Familial, autosomal recessive
Diagnosis/Definite MCPH5
Age/Examination 04y (4 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Nathalie Pouvreau
Database submission license No license selected
Created by Nathalie Pouvreau
Date created 2017-10-25 10:44:19 +02:00 (CEST)
Date last edited 2023-03-07 18:06:30 +01:00 (CET)

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