Microcephaly-complex motor and sensory axonal neuropathy syndrome

Orpha code: 423894OMIM code:

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.

Disease data
Classification

Disease

ORPHA code
423894
OMIM code
-
ICD10 code
G60.0
ICD11 code
-

No additional description.

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