tetrasomy 9p
Findings
No curated finding names tetrasomy 9p yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).
Definition from the Mondo Disease Ontology (MONDO:0018030), read 2026-09-29. CC BY 4.0.
Features
82 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 earlobe morphologyHPOHP:0000363
- Frequent (30% to 79% of cases)
- AmblyopiaHPOHP:0000646
- Frequent (30% to 79% of cases)
- Convex nasal ridgeHPOHP:0000444
- Frequent (30% to 79% of cases)
- Deeply set eyeHPOHP:0000490
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- Global developmental delay
Show the remaining 70
- Abnormal cardiac septum morphologyHPOHP:0001671
- Occasional (5% to 29% of cases)
- Abnormal chorioretinal morphologyHPOHP:0000532
- Occasional (5% to 29% of cases)
- Abnormal dental enamel morphologyHPOHP:0000682
- Occasional (5% to 29% of cases)
- Abnormal mitral valve morphologyHPOHP:0001633
- Occasional (5% to 29% of cases)
- Abnormal number of permanent teethHPOHP:0011044
- Occasional (5% to 29% of cases)
- Abnormal spinal cord morphologyHPOHP:0002143
Where it sits
Other names
3 names
Resolves to: tetrasomy 9p
- Also called
- Chromosome 9, Tetrasomy 9pIsochromosome 9ptetrasomy type 9p