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Aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy

MedGen UID:
349240
Concept ID:
C1859752
Disease or Syndrome
Synonyms: Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 207740

Clinical features

Polyneuropathy
MedGen UID:
57502
Concept ID:
C0152025
Disease or Syndrome
A disease or disorder affecting more than one nerve.
Abnormality of the musculature
MedGen UID:
867380
Concept ID:
C4021745
Anatomical Abnormality
Abnormality originating in one or more muscles, i.e., of the set of muscles of body.
Hypohidrosis
MedGen UID:
108211
Concept ID:
C0553721
Finding

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