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Syndromic X-Linked Intellectual Disability Shashi Type (MONDO:0010277)

Open Trait in OLS

X-linked intellectual disability, Shashi type is characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localized to the q21.3-q27 region of the X chromosome.

Overview

Category

syndromic disease

nervous system disorder

Ontology ID

Internal:11450

Synonyms

MRXS11

SMRXS

Shashi X-linked intellectual disability syndrome

Shashi X-linked mental retardation syndrome

X-linked intellectual disability Shashi type

intellectual developmental disorder, syndromic 11, Shashi type, X-linked recessive

intellectual disability, X-linked, syndromic 11, Shashi type

syndromic X-linked intellectual disability type 11

X-linked intellectual disability, Shashi type

intellectual disability X-linked Shashi type

intellectual disability X-linked syndromic 11

intellectual disability, X-linked, Shashi type

intellectual disability, X-linked, syndromic 11

mental retardation X-linked Shashi type

mental retardation X-linked syndromic 11

mental retardation, X-linked, Shashi type

mental retardation, X-linked, syndromic 11

Mapped terms

DOID:0060826

GARD:0004119

MEDGEN:335348

MESH:C537135

OMIM:300238

Orphanet:85286

SCTID:718900002

UMLS:C1846145

Child terms

Unknown children.