Autosomal dominant intermediate Charcot-Marie-Tooth disease

Synonyms:	autosomal dominant intermediate Charcot-Marie-Tooth; autosomal dominant intermediate Charcot-Marie-Tooth disease; CMTDI; intermediate Charcot-Marie-Tooth disease, autosomal dominant
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0019548
Orphanet:	ORPHA90114

Definition

Autosomal dominant form of intermediate Charcot-Marie-Tooth disease. [from MONDO]

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar