Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000104462 Individual ID 00132272 Associated disease MCPH5 Phenotype details ultrasound microcephaly third trimester pregnancy; birth OFC (SD-8.4), length (SD-2.6), weight (SD-4); OFC (SD-6.9), length (SD-1.5), weight (SD-1.6); <18m-no walk; speech <3y no first senteence; 7y-epilepsy; 4y6m-Borel-Maisonny DQ56; MRI brain 9y-slight left cerebral atrophy; cervicothoracic syringomyelia; spastic hemiplegic cerebral palsy, severe behavioral disorders Diagnosis/Initial microcephaly Inheritance Familial, autosomal recessive Diagnosis/Definite MCPH5 Age/Examination 17.5y 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 14:50:14 +02:00 (CEST) Date last edited 2023-03-07 17:52:20 +01:00 (CET)

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