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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease axonal type 2O

Charcot-Marie-Tooth disease axonal type 2O

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O; Charcot-Marie-Tooth Neuropathy Type 2O; Charcot-Marie-Tooth disease, axonal, type 20
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A rare genetic subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 with characteristics of early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity. Caused by heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. [from SNOMEDCT_US]

Available tests

48 tests are in the database for this condition.

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Clinical tests (48 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDCBM13, CMT2O, DHC1, DHC1a, DNCH1, DNCL, DNECL, DYHC, Dnchc1, HL-3, SMALED1, p22, DYNC1H1
    Summary: dynein cytoplasmic 1 heavy chain 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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