Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
exact
Charcot-Marie-tooth disease-deafness-intellectual disability syndrome
narrow
hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers
exact
hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres
exact
neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibres
related
neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers
related
neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibres
related
SPCC18.08