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microcephaly-complex motor and sensory axonal neuropathy syndrome

^ http://purl.obolibrary.org/obo/MONDO_0018507

Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis. [ Orphanet:423894 ]

Term info

database cross reference
  • Orphanet:423894 (MONDO:equivalentTo)
  • UMLS:CN237512 (MONDO:equivalentTo)
Subsets

ordo_disease

definition

Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_423894, http://linkedlifedata.com/resource/umls/id/CN237512

id

MONDO:0018507