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Metadata
ID DOID:0090024
Name split hand-foot malformation 1 with sensorineural hearing loss
Definition A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21.
https://www.ncbi.nlm.nih.gov/pubmed/22121204
Xrefs

ICD10CM:Q87.2

OMIM:220600

ORDO:71271

Synonyms

congenital deafness with split hands and feet [EXACT]

SHFM1D [EXACT]

Parent Relationships

is_a split hand-foot malformation

is_a autosomal recessive disease

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