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X-linked hereditary sensory and autonomic neuropathy with deafness

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.
Uniprot Description A form of hearing loss characterized by absent or severely abnormal auditory brainstem response, abnormal middle ear reflexes, abnormal speech discrimination, loss of outer hair cell function, and cochlear nerve hypoplasia. DFNX5 patients manifest auditory neuropathy with childhood onset, associated with distal sensory impairment affecting the peripheral nervous system.
Mondo Term and Equivalent IDs
MONDO:0010378:  X-linked hereditary sensory and autonomic neuropathy with deafness
GARD:0012731: 
MESH:C564472: 
Orphanet:139583: 
SCTID:719838008: 
UMLS:C1845095: 
UMLS:C4304400: