Traits

Traits linked to CCDC47

coiled-coil domain containing 47

The Human Phenotype Ontology links 81 traits to CCDC47, 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
Abnormally small head	Always
Broad head shape	Always
Coarse facial features	Always
Downturned corners of mouth	Always
Full lips	Always
High palate	Always
Abnormally large tongue	Often (30–79%)
Almond shaped eyes	Often (30–79%)
Asymmetry of the posterior head	Often (30–79%)
Everted eyelid	Often (30–79%)
Long eyelashes	Often (30–79%)
Midface retrusion	Often (30–79%)
Monobrow	Often (30–79%)
Narrow forehead	Often (30–79%)
Wide mouth	Often (30–79%)
Bulbous nose	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Decreased size of tooth	Not recorded
Dental crowding	Not recorded
Widely spaced teeth	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Degeneration of cerebrum	Always
EEG abnormality	Always
Severe global developmental delay	Always
Central sleep apnea	Often (30–79%)
Decreased reflex response	Often (30–79%)
Epilepsy	Often (30–79%)
Increased reflexes	Often (30–79%)
Obstructive sleep apnea	Often (30–79%)
Thin corpus callosum	Often (30–79%)
Small cerebellum	Sometimes (5–29%)
Absent speech development	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Always
Enlarged liver	Often (30–79%)
Fat in feces	Often (30–79%)
Gallstones	Often (30–79%)
Recurring pancreas inflammation	Often (30–79%)
Chronic diarrhea	Sometimes (5–29%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Sometimes (5–29%)
Decreased liver function	Not recorded
Feeding difficulties	Not recorded

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Always
Overlapping toe	Always
Short foot	Always
Absent ankle reflexes	Often (30–79%)
Bilateral coxa valga	Often (30–79%)
Bowed calf bone	Often (30–79%)
Club feet	Often (30–79%)
Hip dislocation	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal formation of the hip	Always
Low muscle tone	Always
Narrow chest	Often (30–79%)
Scoliosis	Often (30–79%)
Funnel chest	Rarely (1–4%)
Distal arthrogryposis	Not recorded
Double-Jointed	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cerebral visual impairment	Always
Drooping upper eyelid	Always
Astigmatism	Often (30–79%)
Farsightedness	Often (30–79%)
Wide-set eyes	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Itching	Always
Thoracic hypertrichosis	Always
Afro-textured hair	Not recorded
Coarse hair	Not recorded
Curly hair	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Always
High levels of amniotic fluid	Sometimes (5–29%)
Premature birth	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Often (30–79%)
Patent ductus arteriosus	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Recurrent middle ear infection	Always
Low-set ears	Sometimes (5–29%)
Simple ear	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Decreased immune function	Often (30–79%)
Recurrent infections	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Increased serum bile acid concentration	Always
Elevated alkaline phosphatase	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Small nipples	Always

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Decreased body weight	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 CCDC47 and how often each is seen. Find out more at hpo.jax.org.

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