Charcot-Marie-Tooth disease type 2B5

MedGen UID:: 1668955
•Concept ID:: C4749824
•: Disease or Syndrome

Synonym:	Severe early-onset axonal neuropathy due to NEFL deficiency
SNOMED CT:	Severe early-onset axonal neuropathy due to NEFL (neurofilament light) deficiency (771307003); Severe early-onset axonal neuropathy due to NEFL deficiency (771307003); Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency (771307003); Autosomal recessive Charcot-Marie-Tooth disease type 2B5 (771307003); Charcot-Marie-Tooth disease type 2B5 (771307003)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0016454
Orphanet:	ORPHA228374

Definition

A rare axonal hereditary motor and sensory neuropathy with characteristics of infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities. [from SNOMEDCT_US]

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GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCharcot-Marie-Tooth disease type 2B5

Autosomal recessive axonal hereditary motor and sensory neuropathy
- Charcot-Marie-Tooth disease type 2B5

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Charcot-Marie-Tooth disease type 2B5

Definition

Term Hierarchy

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