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Autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation

MedGen UID:
1798938
Concept ID:
C5567515
Disease or Syndrome
Synonyms: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation; autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation; CMT2 due to DGAT2 mutation
SNOMED CT: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation (1172684002); Autosomal dominant Charcot-Marie-Tooth disease type 2 due to diacylglycerol O-acyltransferase 2 mutation (1172684002)
 
Monarch Initiative: MONDO:0044625
Orphanet: ORPHA487814

Definition

A rare autosomal dominant hereditary axonal motor and sensory neuropathy with characteristics of childhood onset of slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs, associated with sensory impairment and ataxia presenting with an unsteady, broad-based gait and frequent falls. Additional signs include decreased deep tendon reflexes and hand tremor. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation

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