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spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents.
Mondo Term and Equivalent IDs
MONDO:0010051:  spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
GARD:0004932: 
MESH:C564808: 
Orphanet:3011: 
UMLS:C1849112: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found