Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

Orpha code: 3011OMIM code: 270950

Definition

A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.

Disease data
Classification

Disease

Synonyms
Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome
Kwadriplegia spastyczna -zwyrodnienie barwnikowe siatkówki - niepełnosprawność intelektualna
ORPHA code
3011
OMIM code
270950
ICD10 code
G82.4
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl