Phenotype #0000104340

Individual ID 00132146
Associated disease MCPH5
Phenotype details ultrasound no microcephaly; birth OFC (SD-4), length (SD-1.3), weight (SD-1.5); OFC (SD-5.5), length (SD+0.7), weight (SD+1.1); <18m-no walk; speech <3y no first senteence; no epilepsy; MRI brain 0.5y-gyral simplification, enlarged subarachnoid spaces, mega cisterna magna
Diagnosis/Initial microcephaly
Inheritance Familial, autosomal recessive
Diagnosis/Definite MCPH5
Age/Examination 5.5y
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 09:14:35 +02:00 (CEST)
Date last edited 2023-03-07 17:50:01 +01:00 (CET)

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