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1.

Charcot-Marie-Tooth disease type 4D

Charcot-Marie-Tooth disease type 4D (CMT4D) is an autosomal recessive disorder of the peripheral nervous system characterized by early-onset distal muscle weakness and atrophy, foot deformities, and sensory loss affecting all modalities. Affected individuals develop deafness by the third decade of life (summary by Okamoto et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive Charcot-Marie-Tooth disease, see CMT4A (214400). [from OMIM]

MedGen UID:
371304
Concept ID:
C1832334
Disease or Syndrome
2.

Acrodysostosis 2 with or without hormone resistance

Acrodysostosis-2 (ACRDYS2) is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance (summary by Michot et al., 2012 and Lee et al., 2012). For a discussion of genetic heterogeneity of acrodysostosis, see ACRDYS1 (101800). [from OMIM]

MedGen UID:
766164
Concept ID:
C3553250
Disease or Syndrome
3.

Fingers, relative length of

MedGen UID:
342665
Concept ID:
C1851079
Finding
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