syndromic intellectual disability syndromic disease hereditary disease Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome https://github.com/monarch-initiative/mondo/issues/551 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6752 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/charcot_marie_tooth_disease_x_linked_recessive_4 https://www.malacards.org/card/neuropathy_hereditary_motor_and_sensory_with_deafness_impaired_intellectual_development_and_absent_sensory_large_myelinated_fibers Charcot-Marie-tooth disease-deafness-intellectual disability syndrome neuropathy, hereditary motor and sensory, with deafness, intellectual disability, and absent sensory large myelinated fibres hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres OMIM:214370 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers Orphanet:90103 MEDGEN:348419 neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibres SCTID:715666007 GARD:0016786 UMLS:C1861669 MONDO:0008960 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.