Phenotype #0000104339

Individual ID	00132145
Associated disease	MCPH5
Phenotype details	ultrasound microcephaly third trimester pregnancy; OFC (SD-8.5), length (SD+0.5); <18m-walk; speech <3y first senteence; 6m-epilepsy; hyperactivity, enuresis
Diagnosis/Initial	microcephaly
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MCPH5
Age/Examination	09y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Nathalie Pouvreau
Database submission license	No license selected
Created by	Nathalie Pouvreau
Date created	2017-10-24 09:09:03 +02:00 (CEST)
Date last edited	2023-03-07 17:47:27 +01:00 (CET)

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