FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term chromosome 15q26-qter deletion syndrome ID (Ontology) DOID:0060397 (Human Disease)
Definition 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.
Also Known As "15q26 deletion syndrome" ; "distal 15q deletion syndrome" ; "distal monosomy 15q" (for all, see Synonyms field below)
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  chromosomal disease
   |__chromosomal deletion syndrome
       |__chromosome 15q26-qter deletion syndrome
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Is a chromosomal deletion syndrome
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Synonyms
  • "15q26 deletion syndrome" EXACT
    "distal 15q deletion syndrome" EXACT
    "distal monosomy 15q" EXACT
    "Drayer syndrome" EXACT
    "telomeric 15q deletion syndrome" EXACT
Secondary IDs
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ICD10CM:Q93.5
MESH:C567232
MIM:612626
ORDO:1596