Traits

Traits linked to CCDC28B

coiled-coil domain containing 28B

The Human Phenotype Ontology links 62 traits to CCDC28B, by body system: features seen in people with one of the gene's rare conditions.

CCDC28B

Abnormality of the eye

Trait	How often it is seen
Astigmatism	Always
Decreased clarity of vision	Always
Difficulties with night vision	Always
Hyperautofluorescent macular lesion	Always
Involuntary, rapid, rhythmic eye movements	Always
Loss of peripheral vision	Always
Retina degeneration	Always
Rod-cone dystrophy	Always
Spicular pigmentation of the retina	Always
Close sighted	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Clouding of the lens of the eye	Sometimes (5–29%)
Breakdown of light-sensitive cells in back of eye	Not recorded
Cross-eyed	Not recorded
Glaucoma	Not recorded

Abnormality of limbs

Trait	How often it is seen
Extra little finger	Always
Extra toe attached near the little toe	Always
Postaxial polydactyly	Often (30–79%)
Broad foot	Not recorded
Duplication of bones of the toes	Not recorded
Radial deviation of finger	Not recorded
Short fingers or toes	Not recorded
Short foot	Not recorded
Webbed fingers or toes	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Often (30–79%)
Intellectual disability	Often (30–79%)
Abnormal speech pattern	Not recorded
Abnormality of balance	Not recorded
Ataxia	Not recorded
Delayed speech and language development	Not recorded
Incoordination	Not recorded
Specific learning disability	Not recorded

Abnormality of head or neck

Trait	How often it is seen
High palate	Always
Baggy eyes	Often (30–79%)
Big calvaria	Not recorded
Dental crowding	Not recorded
Failure of development of between one and six teeth	Not recorded
High, narrow palate	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Primary amenorrhea	Always
Abnormality of the kidney	Not recorded
Abnormality of the ovary	Not recorded
Abnormally closed or absent vagina	Not recorded
Decreased testicular size	Not recorded
Short penis	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing of blood vessels in back of eye	Always
High blood pressure	Not recorded
Left ventricular hypertrophy	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged colon lacking nerve cells	Sometimes (5–29%)
Biliary tract abnormality	Not recorded
Hepatic fibrosis	Not recorded

Growth abnormality

Trait	How often it is seen
Abdominal obesity	Always
Obesity	Very often (80–99%)
Truncal obesity	Very often (80–99%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Not recorded
Nephrogenic diabetes insipidus	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Allergy	Not recorded
Asthma	Not recorded

Laboratory abnormality

Trait	How often it is seen
Body fails to respond to insulin	Always
Diabetes mellitus	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Not recorded

Abnormality of the integument

Trait	How often it is seen
Excessive hairiness	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Scoliosis	Sometimes (5–29%)

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 CCDC28B and how often each is seen. Find out more at hpo.jax.org.

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