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Al-Raqad syndrome

Genetics: - chromosome 1q24.2 - associated with mutations in DCPS Clinical manifestations: - delayed psychomotor development - moderate to severe intellectual disability - poor or absent speech - microcephaly - congenital hypotonia - severe growth delay

General

genetic syndrome (multisystem disorder)

Database Correlations

OMIM 616459

References

  1. UniProt :accession Q8IU60
  2. OMIM :accession 616459