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Wiedemann-Steiner syndrome

Genetics: - associated with mutations in KMT2A Clinical manifestations: - hairy elbows (hypertrichosis cubiti), - intellectual disability - a distinctive facial appearance - long eyelashes, - thick or arched eyebrows with a lateral flare - downslanting & vertically narrow palpebral fissures - short stature

General

genetic syndrome (multisystem disorder)

Database Correlations

OMIM 605130

References

  1. OMIM :accession 605130
  2. UniProt :accession Q03164