Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615540 http://purl.bioontology.org/ontology/OMIM/615540
Preferred Name	DEAFNESS, AUTOSOMAL RECESSIVE 76
Synonyms	DFNB76
Type	http://www.w3.org/2002/07/owl#Class

altLabel	DFNB76
prefLabel	DEAFNESS, AUTOSOMAL RECESSIVE 76
Gene Symbol	DFNB76 C19orf46 NESP4 SYNE4
Scope Statement	Two unrelated families have been reported (last curated November 2013) [MISCELLANEOUS] Caused by mutation in the spectrin repeat-containing nuclear envelope protein 4 gene (SYNE4, 615535.0001) [MOLECULAR BASIS] Onset in first decade (birth to 6 years) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU044555
tui	T047
Gene Locus	19q13.12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615540
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3147083
OMIM Entry Type	3
OMIM MimType Value	pound

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