Phenotype #0000296659

Individual ID 00404067
Associated disease CMT
Phenotype details 15-y boy with progressive weakness and wasting of both upper and lower limbs, behavioral abnormalities and hearing loss. He has delayed motor development but normal mental development. His nerve conduction velocity study showed demyelinating peripheral neuropathy. He has bilateral sensorineural hearing loss.
Diagnosis/Initial Autosomal recessive Hereditary sensorimotor neuropathy
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 15y (15 years)
Age/Diagnosis -
Age/Onset 08y
Phenotype/Onset -
Protein -
Owner name Sherifa Ahmed Hamed
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Sherifa Ahmed Hamed