Disease #06111 (NEDMIGS;MRT55 (neurodevelopmental disorder with microcephaly and gray sclerae), OMIM:617051)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	NEDMIGS;MRT55
Name	neurodevelopmental disorder with microcephaly and gray sclerae
OMIM ID	617051
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	PUS3
Associated tissues	-
Disease features	-
Remarks	-
Date created	2021-12-10 23:20:41 +01:00 (CET)
Date last edited	2022-02-24 12:37:37 +01:00 (CET)

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