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Metadata
ID DOID:0060397
Name chromosome 15q26-qter 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
Xrefs

ICD10CM:Q93.5

MESH:C567232

OMIM:612626

ORDO:1596

Subsets

DO_rare_slim

Synonyms

15q26 deletion syndrome [EXACT]

distal 15q deletion syndrome [EXACT]

distal monosomy 15q [EXACT]

Drayer syndrome [EXACT]

telomeric 15q deletion syndrome [EXACT]

Parent Relationships

is_a chromosomal deletion syndrome

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