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Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome (MONDO:0010051)

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.

Overview

Category

syndromic disease

Ontology ID

MONDO:0010051

Internal:11242

Synonyms

spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome

progressive quadriparesis, intellectual disability, retinitis pigmentosa and hearing loss

progressive quadriparesis, mental retardation, retinitis pigmentosa and hearing loss

spastic quadriplegia retinitis pigmentosa intellectual disability

spastic quadriplegia retinitis pigmentosa mental retardation

spastic quadriplegia, retinitis pigmentosa, and intellectual disability

spastic quadriplegia, retinitis pigmentosa, and mental retardation

Mapped terms

GARD:0004932

MEDGEN:376519

MESH:C564808

OMIM:270950

Orphanet:3011

UMLS:C1849112

Child terms

Unknown children.

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