Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
http://purl.obolibrary.org/obo/MONDO_0008960
A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease. [ Orphanet:90103 ]
Term info
- Orphanet:90103 (OMIM:214370)
- OMIM:214370 (Orphanet:90103/e)
- SCTID:715666007 (MONDO:equivalentTo)
ordo_malformation_syndrome
https://github.com/monarch-initiative/mondo/issues/551, https://github.com/monarch-initiative/mondo/issues/5588
A rare demyelinating hereditary motor and sensory neuropathy characterized by early-onset, slowly progressive, distal muscular weakness and atrophy with no sensory impairment, congenital sensorineural deafness and mild intellectual disability (with absence of normal speech development). The absence of large myelinated fibers on sural nerve biopsy is equally characteristic of the disease.
https://omim.org/entry/214370, http://identifiers.org/snomedct/715666007, http://purl.obolibrary.org/obo/Orphanet_90103
http://purl.obolibrary.org/obo/MONDO_0000508
hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers, Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
Charcot-Marie-tooth disease-deafness-intellectual disability syndrome
neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibers, deafness with Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease and deafness, neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers
MONDO:0008960