chromosome 15q26-qter deletion syndrome

Term ID

DOID:0060397

Synonyms

• 15q26 deletion syndrome
• distal 15q deletion syndrome
• distal monosomy 15q
• Drayer syndrome
• telomeric 15q deletion syndrome

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. https://pubmed.ncbi.nlm.nih.gov/18651844

References

• ICD10CM:Q93.5
• MESH:C567232
• OMIM:612626
• ORDO:1596

Ontology

Human Disease   ( DOID:0060397 )