Autosomal recessive spastic paraplegia type 9B

Orpha code: 447760OMIM code: 616586

Definicja

A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence.

Disease data
Klasyfikacja

Disease

Synonimy
AR-SPG9B
AR-SPG9B
Kod ORPHA
447760
Kod OMIM
616586
Kod ICD10
G11.4
Kod ICD11
-

No additional description.

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