Phenotype #0000104316

Individual ID 00132122
Associated disease MCPH5
Phenotype details ultrasound microcephaly third trimester pregnancy; birth OFC (SD-4.5), length (SD-0.2), weight (SD-0.7); OFC (SD-8.5), length (SD-0.2), weight (SD-0.4); <18m-walk; speech <3y no first senteence; 14y-epilepsy; MRI brain 0.8y-gyral simplification, mild ventricular enlargement; scaphocephaly; behavioral disorders
Diagnosis/Initial microcephaly
Inheritance Familial, autosomal recessive
Diagnosis/Definite MCPH5
Age/Examination 19y (19 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Nathalie Pouvreau
Database submission license No license selected
Created by Nathalie Pouvreau
Date created 2017-10-24 08:26:46 +02:00 (CEST)
Date last edited 2023-03-07 17:25:09 +01:00 (CET)

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