Phenotype #0000325296 - Global Variome shared LOVD

Global Variome shared LOVD

GPC5 (glypican 5)

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

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Phenotype #0000325296

Individual ID	00435059
Associated disease	NDD
Diagnosis/Initial	NDD
Diagnosis/Definite	-
Phenotype details	see paper; ..., global developmental delay; intellectual disability; language delay; impaired motor development; MRI brain cerebellar atrophy; no hypotonia; no seizures; microcephaly; astigmatism; intra-uterine growth retardation; short forehead, epicanthic fold, bifid uvula
Inheritance	Familial, autosomal recessive
Age/Examination	10y (10 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-05-05 15:10:52 +02:00 (CEST)
Date last edited	N/A

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