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Seckel syndrome 2

Synonyms
MICROCEPHALIC PRIMORDIAL DWARFISM 2; SECKEL-TYPE DWARFISM 2

Summary

Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial appearance (Borglum et al., 2001). For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600). [from OMIM]

Available tests

31 tests are in the database for this condition.

Clinical tests (31 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COM1, CTIP, JAWAD, JWDS, RIM, SAE2, SCKL2, RBBP8
    Summary: RB binding protein 8, endonuclease

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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