Traits

Traits linked to COLEC10

collectin subfamily member 10

The Human Phenotype Ontology links 47 traits to COLEC10, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Epicanthus inversus	Very often (80–99%)
Highly arched eyebrow	Very often (80–99%)
Narrow opening between the eyelids	Very often (80–99%)
Cleft of the mouth	Often (30–79%)
Cleft palate	Often (30–79%)
Cleft upper lip	Often (30–79%)
Corners of eye widely separated	Often (30–79%)
Deformity of the skull	Often (30–79%)
Downturned corners of mouth	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Abnormal of nasal shape	Sometimes (5–29%)
Cleft of the face	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Bilateral cryptorchidism	Often (30–79%)
Short penis	Often (30–79%)
Undescended testes	Often (30–79%)
Horseshoe kidney	Sometimes (5–29%)
Cleft of scrotum	Not recorded
Penoscrotal hypospadias	Not recorded

Abnormality of limbs

Trait	How often it is seen
Fused forearm bones	Very often (80–99%)
Limited pronation/supination of forearm	Very often (80–99%)
Curvature of digit	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Preaxial polydactyly	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Very often (80–99%)
Large fleshy ears	Often (30–79%)
Abnormally shaped ears	Sometimes (5–29%)
Auricular pit	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Very often (80–99%)
Abnormal anterior chamber morphology	Often (30–79%)
Wide-set eyes	Often (30–79%)
Corneal opacity	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Prominent swayback	Often (30–79%)
Scoliosis	Often (30–79%)
Human tail	Sometimes (5–29%)
Prominent tailbone	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Gap between large left and right abdominal muscles	Often (30–79%)
Feeding difficulties	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Often (30–79%)
Spina bifida occulta	Often (30–79%)
Global developmental delay	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay as children	Often (30–79%)
Short stature	Sometimes (5–29%)
Growth delay	Not recorded

Abnormality of the breast

Trait	How often it is seen
Accessory nipple	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Spinal dimple	Often (30–79%)

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 COLEC10 and how often each is seen. Find out more at hpo.jax.org.

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