Phenotype #0000104277

Individual ID 00132087
Associated disease MCPH5
Phenotype details ultrasound microcephaly second trimester pregnancy; birth OFC (SD-7.5), length (SD-1), weight (SD-1.6); OFC (SD-10), length (SD-5.8), weight (SD-1.3); <18m-no walk; speech <3y no first senteence; no epilepsy; MRI brain -slight cortical atrophy; hyperactivity
Diagnosis/Initial microcephaly
Inheritance Familial, autosomal recessive
Diagnosis/Definite MCPH5
Age/Examination 11.7y
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Nathalie Pouvreau
Database submission license No license selected
Created by Nathalie Pouvreau
Date created 2017-10-23 13:32:38 +02:00 (CEST)
Date last edited 2023-03-07 17:04:15 +01:00 (CET)

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