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GTR Home > Conditions/Phenotypes > Clark-Baraitser syndrome

Clark-Baraitser syndrome

Synonyms
BARAITSER SYNDROME; Intellectual disability, autosomal dominant 49; MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; Mental retardation, tall stature, obesity, macrocephaly and typical facial features

Summary

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities (such as aggressive tantrums and autistic-like behavior), and delayed speech development. Dysmorphic facial features include large, square forehead, prominent supraorbital ridges, broad nasal tip, large ears, prominent lower lip, and minor dental anomalies such as small upper lateral incisors and central incisor gap. [from ORPHANET]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MRD49, TRIP-12, TRIPC, ULF, TRIP12
    Summary: thyroid hormone receptor interactor 12

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