chromosome 13q14 deletion syndrome
Findings
No curated finding names chromosome 13q14 deletion syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.
Definition from the Mondo Disease Ontology (MONDO:0013481), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
46 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.
- Absent septum pellucidumHPOHP:0001331
- 1 of 1 reported patient
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 1 reported patient
- Chorioretinal colobomaHPOHP:0000567
- 1 of 1 reported patient
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Growth delayHPO
Where it sits
Other names
5 names
Resolves to: chromosome 13q14 deletion syndrome
- Also called
- chromosome 13q14 deletion syndrome, isolated casesDel(13)(q14)del(13q14)deletion 13q14monosomy type 13q14