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Metadata
ID DOID:0111628
Name high myopia-sensorineural deafness syndrome
Definition A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in SLITRK6 on chromosome 13q31.1.
https://ghr.nlm.nih.gov/condition/deafness-and-myopia-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/23543054
Xrefs

GARD:12844

OMIM:221200

ORDO:363396

Synonyms

deafness and myopia [EXACT]

deafness and myopia syndrome [EXACT]

DFNMYP [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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