Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome

Orpha code: 73245OMIM code:

Definition

A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs.

Disease data
Classification

Malformation syndrome

ORPHA code
73245
OMIM code
-
ICD10 code
G12.8
ICD11 code
-

No additional description.

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