chromosome 19p13.13 deletion syndrome
Findings
No curated finding names chromosome 19p13.13 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
19p13.13 microdeletion syndrome is a rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation).
Definition from the Mondo Disease Ontology (MONDO:0013336), read 2026-09-29. CC BY 4.0.
Features
57 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- Prominent foreheadHPOHP:0011220
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- Functional abnormality of the gastrointestinal tract
Show the remaining 45
- Abdominal painHPOHP:0002027
- Occasional (5% to 29% of cases)
- BrachycephalyHPOHP:0000248
- Occasional (5% to 29% of cases)
- Cafe-au-lait spotHPOHP:0000957
- Occasional (5% to 29% of cases)
- Chiari type I malformationHPOHP:0007099
- Occasional (5% to 29% of cases)
- ClinodactylyHPOHP:0030084
- Occasional (5% to 29% of cases)
- Corpus callosum atrophyHPOHP:0007371
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: chromosome 19p13.13 deletion syndrome
- Also called
- Del(19)(p13.13)monosomy 19p13.13