Global Variome shared LOVD

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Phenotype #0000296666 Individual ID 00404074 Associated disease CMT Phenotype details 7-y old patient with marked developmental delay (crawling started at the age of 3) but no apparent mental delay. progressive weakness and wasting of the upper and lower limbs started at the age of 5. There was feet inward inversion. Nerve conduction velocity study showed demyelinating peripheral neuropathy. There was a family history of 3 paternal cousins (18y female, 16y male, 10ys male) with developmental delay and progressive weakness and wasting of lower limbs, among were a male (18 years old) with additional progressive hearing loss. Diagnosis/Initial Autosomal recessive Hereditary sensorimotor neuropathy Inheritance Familial, autosomal recessive Diagnosis/Definite CMT Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset 05y Phenotype/Onset - Protein - Owner name Sherifa Ahmed Hamed Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Sherifa Ahmed Hamed Date created 2022-02-25 22:04:37 +01:00 (CET) Date last edited 2022-03-03 10:16:39 +01:00 (CET)

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