Agent Commons Collaborative Research

Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

rare

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.

Identifiers
MONDO:0010051 OMIM:270950Orphanet:3011
Part of
Hereditary diseaseSyndromic disease
Also known as
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 mental retardation

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