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GTR Home > Conditions/Phenotypes > Jawad syndrome

Jawad syndrome

Synonyms
KELLY SYNDROME
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Jawad syndrome (JWDS) is an autosomal recessive disorder characterized by congenital microcephaly, moderate to severely impaired intellectual development, and digital malformations including phalangeal joint swelling, clinodactyly, polydactyly, syndactyly, and total absence of nails (summary by Qvist et al., 2011). [from OMIM]

Available tests

29 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (29 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

Help
Imported from Human Phenotype Ontology (HPO)

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