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Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita

MedGen UID:
337105
Concept ID:
C1844864
Disease or Syndrome
Synonym: Charcot-Marie-Tooth type 1 aplasia cutis congenita
 
Monarch Initiative: MONDO:0010552
OMIM®: 302803

Clinical features

From HPO
Sensory axonal neuropathy
MedGen UID:
334116
Concept ID:
C1842587
Finding
An axonal neuropathy of peripheral sensory nerves.
Motor axonal neuropathy
MedGen UID:
413108
Concept ID:
C2749625
Disease or Syndrome
Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg.
Calvarial skull defect
MedGen UID:
871299
Concept ID:
C4025787
Anatomical Abnormality
A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.
Aplasia cutis congenita of scalp
MedGen UID:
343411
Concept ID:
C1855698
Congenital Abnormality
A developmental defect resulting in the congenital absence of skin on the scalp.

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