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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal dominant 15

Intellectual disability, autosomal dominant 15

Synonyms
COFFIN-SIRIS SYNDROME 3

Summary

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). [from OMIM]

Available tests

38 tests are in the database for this condition.

Clinical tests (38 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BAF47, CSS3, INI-1, INI1, MRD15, PPP1R144, RDT, RTPS1, SNF5, SNF5L1, SWNTS1, Sfh1p, Snr1, hSNFS, SMARCB1
    Summary: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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