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GTR Home > Conditions/Phenotypes > KINSSHIP syndrome

KINSSHIP syndrome

Synonyms
MESOMELIC DYSPLASIA, AFF3-RELATED; MESOMELIC DYSPLASIA, STEICHEN-GERSDORF TYPE

Summary

KINSSHIP syndrome (KINS) is an autosomal dominant disorder characterized by a recognizable pattern of anomalies including developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive (summary by Voisin et al., 2021). [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: KINS, LAF4, MLLT2-like, AFF3
    Summary: ALF transcription elongation factor 3

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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