Disease #06854 (MFHIEN (Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis), OMIM:300990)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	MFHIEN
Name	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
OMIM ID	300990
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	X-linked recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	AMMECR1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2021-12-10 23:20:41 +01:00 (CET)
Date last edited	N/A

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