distal 17p13.3 microdeletion syndrome
Findings
No curated finding names distal 17p13.3 microdeletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Distal 17p13.3 microdeletion syndrome is a rare partial monosomy of the short arm of chromosome 17 with a variable phenotype characterized by prenatal and postnatal growth retardation, developmental delay, mild intellectual disability, macrocephaly, mild facial dysmorphisms including prominent forehead, hypertelorism, thick upper and/or lower lip vermillion, and structural abnormalities of the brain variably including white matter abnormalities, prominent Virchow-Robin spaces, Chiari I malformation, corpus callosum hypoplasia, but no lissencephaly.
Definition from the Mondo Disease Ontology (MONDO:0016839), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
2 names
Resolves to: distal 17p13.3 microdeletion syndrome
- Also called
- distal del(17)(p13.3)distal monosomy 17p13.3