Spastic paraplegia-glaucoma-intellectual disability syndrome

Orpha code: 2818OMIM code: 270850

Definition

Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive.

Disease data
Classification

Disease

ORPHA code
2818
OMIM code
270850
ICD10 code
G11.4
ICD11 code
-

No additional description.

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