DeCS Server - List Exact Term

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DeCS

Descriptor English:

Coffin-Lowry Syndrome

Descriptor Spanish:

Síndrome de Coffin-Lowry

Descriptor Portuguese:

Síndrome de Coffin-Lowry

Synonyms English:

Coffin Syndrome
Mental Retardation with Osteocartilaginous Abnormalities
Coffin Lowry Syndrome
Syndrome, Coffin
Syndrome, Coffin-Lowry

Tree Number:

Definition English:

A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.

See Related English:

History Note English:

2003

Allowable Qualifiers English:

Record Number:

37283

Unique Identifier:

D038921

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