Phenotype #0000104461

Individual ID 00132271
Associated disease MCPH5
Phenotype details ultrasound microcephaly second and third trimester pregnancy; birth OFC (SD-3.8), length (SD-1), weight (SD+0.2); OFC (SD-6), length (SD2), weight (SD+1); <18m-walk; no epilepsy; behavioral disorders
Diagnosis/Initial microcephaly
Inheritance Familial, autosomal recessive
Diagnosis/Definite MCPH5
Age/Examination 01y (1 year)
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 14:35:46 +02:00 (CEST)
Date last edited 2023-03-07 17:57:07 +01:00 (CET)

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