Phenotype #0000324301

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00433923
Associated disease	microcephaly
Diagnosis/Initial	microcephaly
Diagnosis/Definite	MCPH5
Phenotype details	normal birth weight; weight SD-1.5 , height SD-3.1 , OFC SD-10.7 ; mild intellectual disability DQ/IQ67; can speak sentences, read, write, social behaviorshort stature
Inheritance	Familial, autosomal recessive
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-03-16 10:19:22 +01:00 (CET)
Date last edited	N/A

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