Disease #05279 (IHPRF3 (hypotonia, infantile, with psychomotor retardation and characteristic facies, type 3 (IHPRF-3)), OMIM:616900)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	IHPRF3
Name	hypotonia, infantile, with psychomotor retardation and characteristic facies, type 3 (IHPRF-3)
OMIM ID	616900
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	TBCK
Associated tissues	-
Disease features	-
Remarks	-
Date created	2017-06-12 08:30:51 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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