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.
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system