Phenotype #0000104338

Individual ID 00132144
Associated disease MCPH5
Phenotype details ultrasound microcephaly third trimester pregnancy; birth OFC (SD-4.7), length (SD-2.5), weight (SD-2); OFC (SD-6.4), length (SD-0.6), weight (SD-0.4); <18m-walk; speech <3y no first senteence; no epilepsy; WPPSI-III (5.5): FSIQ = 82*/ VIQ = 75/ PIQ = 90/ GCL = 77; MRI brain 5.5y-white matter hypersignal in T2-weighted images, ventricular enlargement
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 08:51:45 +02:00 (CEST)
Date last edited 2023-03-07 17:35:16 +01:00 (CET)

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