Disease #06976 (MRXSPF (intellectual developmental disorder, X-linked syndromic, with pigmentary mosaicism and coarse facies), OMIM:301066)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	MRXSPF
Name	intellectual developmental disorder, X-linked syndromic, with pigmentary mosaicism and coarse facies
OMIM ID	301066
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	X-linked
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	TFE3
Associated tissues	-
Disease features	-
Remarks	-
Date created	2022-11-25 16:07:15 +01:00 (CET)
Date last edited	N/A

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