ring chromosome 13
Findings
No curated finding names ring chromosome 13 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.
Definition from the Mondo Disease Ontology (MONDO:0019907), read 2026-09-29. CC BY 4.0.
Features
42 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)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Ambiguous genitaliaHPOHP:0000062
- Frequent (30% to 79% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- Aplasia/hypoplasia involving bones of the hand
Show the remaining 30
- MicropenisHPOHP:0000054
- Frequent (30% to 79% of cases)
- Primary hypothyroidismHPOHP:0000832
- Frequent (30% to 79% of cases)
- Skeletal dysplasiaHPOHP:0002652
- Frequent (30% to 79% of cases)
- Wide nasal bridgeHPOHP:0000431
- Frequent (30% to 79% of cases)
- Abnormal incisor morphologyHPOHP:0011063
- Occasional (5% to 29% of cases)
- Abnormal renal physiologyHPOHP:0012211
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: ring chromosome 13
- Also called
- Ring chromosome type 13