Metadata | |
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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 | |
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 |