Traits

Traits linked to CCNQ

cyclin Q

The Human Phenotype Ontology links 58 traits to CCNQ, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal kidney location	Often (30–79%)
Absent kidney	Often (30–79%)
Double vagina	Often (30–79%)
Enlarged clitoris	Often (30–79%)
Heart shaped uterus	Often (30–79%)
Horseshoe kidney	Often (30–79%)
Hydronephrosis	Often (30–79%)
Renal failure	Often (30–79%)
Underdeveloped labia	Often (30–79%)
Vesicoureteral reflux	Often (30–79%)
Crossed fused renal ectopia	Sometimes (5–29%)
Hydroureter	Sometimes (5–29%)
Pelvic kidney	Sometimes (5–29%)
Underdeveloped bladder	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Depressed nasal bridge	Always
Wide nose	Always
Bulbous nose	Often (30–79%)
Corners of eye widely separated	Often (30–79%)
Deformity of the skull	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Cleft eyelid	Sometimes (5–29%)
Broad forehead	Not recorded
Broad nasal tip	Not recorded
Narrow nose	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiac septum morphology	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Aortic regurgitation	Sometimes (5–29%)
Aortic valve has two leaflets rather than three	Sometimes (5–29%)
Mitral atresia	Sometimes (5–29%)
Narrowing of lung artery	Sometimes (5–29%)
Narrowing of peripheral lung artery	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)
Valvular pulmonary stenosis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Club foot on both sides	Always
Curvature of little finger	Always
Fused toes	Always
Single transverse palmar crease	Always
Webbed 3rd-4th toes	Always
Webbed 3rd-5th toes	Always
Webbed 4th-5th toes	Always
Underdeveloped outer large forearm bone	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Duane anomaly	Always
Breakdown of light-sensitive cells in back of eye	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Macular dystrophy	Sometimes (5–29%)
Severe near sightedness	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Spina bifida occulta	Always
Epilepsy	Sometimes (5–29%)
Fluid-filled cyst in spinal cord	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Prenatal growth deficiency	Sometimes (5–29%)
Small for gestational age	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Absent anus	Always
Abnormal connection between rectum and vagina	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Lop ear	Very often (80–99%)
Low-set ears	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to CCNQ and how often each is seen. Find out more at hpo.jax.org.

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