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DO Term : chromosome 15q26-qter deletion syndrome [DOID:0060397] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia.
  • synonyms:
  • distal 15q deletion syndrome,
  • MESH:C567232,
  • Drayer syndrome,
  • 15q26 deletion syndrome,
  • ORDO:1596,
  • telomeric 15q deletion syndrome,
  • ICD10CM:Q93.5,
  • OMIM:612626,
  • distal monosomy 15q,
  • 612626
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