Phenotype #0000104281

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00132090
Associated disease	MCPH5
Phenotype details	ultrasound no microcephaly; birth OFC (SD-3.4), length (SD0), weight (SD+1.1); OFC (SD-4.1), length (SD-0.8), weight (SD+0.9); <18m-no walk; speech <3y no first senteence; no epilepsy
Diagnosis/Initial	microcephaly
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MCPH5
Age/Examination	20y (20 years)
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 14:34:17 +02:00 (CEST)
Date last edited	2023-03-07 17:13:21 +01:00 (CET)

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