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Traits
Traits linked to CDKN1C
cyclin dependent kinase inhibitor 1C
The Human Phenotype Ontology links 88 traits to CDKN1C, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Abnormality of the reproductive system | Very often (80–99%) |
| Decreased testicular size | Very often (80–99%) |
| Hydronephrosis | Very often (80–99%) |
| Hypospadias | Very often (80–99%) |
| Undescended testes | Very often (80–99%) |
| Abnormal scrotum morphology | Often (30–79%) |
| Cleft of scrotum | Sometimes (5–29%) |
| Microphallus | Sometimes (5–29%) |
| Painful menstruation | Sometimes (5–29%) |
| Enlarged kidney | Not recorded |
| Gonadoblastoma | Not recorded |
| Increased calcium level in kidney | Not recorded |
| Kidney stone | Not recorded |
| Nephroblastoma | Not recorded |
| Overgrowth of external genitalia | Not recorded |
| Renal cortical cysts | Not recorded |
| Short penis | Not recorded |
| Vesicoureteral reflux | Not recorded |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Prominent forehead | Always |
| Short nose | Always |
| Depressed nasal bridge | Very often (80–99%) |
| Frontal bossing | Very often (80–99%) |
| Little lower jaw | Very often (80–99%) |
| Relatively large head | Very often (80–99%) |
| Triangular face | Very often (80–99%) |
| Cleft palate | Often (30–79%) |
| Big calvaria | Sometimes (5–29%) |
| Dandy-Walker malformation | Sometimes (5–29%) |
| Deformity of the skull | Sometimes (5–29%) |
| Abnormally large tongue | Not recorded |
| Coarse facial features | Not recorded |
| Midface retrusion | Not recorded |
| Prominent back of the head | Not recorded |
| Prominent metopic ridge | Not recorded |
| Wide fontanelles | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Curvature of little finger | Very often (80–99%) |
| Metaphyseal dysplasia | Very often (80–99%) |
| Smaller or shorter than typical limbs | Very often (80–99%) |
| Short 5th finger | Often (30–79%) |
| Webbed fingers or toes | Often (30–79%) |
| Cleft hand | Sometimes (5–29%) |
| More than five fingers or toes on hands or feet | Sometimes (5–29%) |
| Asymmetric overgrowth | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Feeding difficulties in infancy | Very often (80–99%) |
| Inguinal hernia | Sometimes (5–29%) |
| Enlarged liver | Not recorded |
| Gap between large left and right abdominal muscles | Not recorded |
| Hepatoblastoma | Not recorded |
| Omphalocele | Not recorded |
| Pancreatic hyperplasia | Not recorded |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Small adrenal glands | Always |
| Decreased activity of gonads | Very often (80–99%) |
| Underactive thyroid | Sometimes (5–29%) |
| Adrenocortical carcinoma | Not recorded |
| Adrenocortical cytomegaly | Not recorded |
| Decreased response to growth hormone stimulation test | Not recorded |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Prenatal growth deficiency | Always |
| Growth delay as children | Very often (80–99%) |
| Short stature | Very often (80–99%) |
| Small for gestational age | Very often (80–99%) |
| Uneven or disproportionate growth of one body part compared to another | Sometimes (5–29%) |
| General overgrowth | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Osteopenia | Always |
| Delayed bone maturation | Very often (80–99%) |
| Low muscle tone | Very often (80–99%) |
| Abnormal development of end part of bone | Not recorded |
| Advanced bone age | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Delayed speech and language development | Often (30–79%) |
| Motor delay | Often (30–79%) |
| Attention deficit | Sometimes (5–29%) |
| Global developmental delay | Sometimes (5–29%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Elevated urine calcium levels | Very often (80–99%) |
| Low blood sugar | Sometimes (5–29%) |
| High blood calcium levels | Not recorded |
| Low blood sugar in newborn | Not recorded |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Low levels of amniotic fluid | Often (30–79%) |
| Small placenta | Sometimes (5–29%) |
| Placental mesenchymal dysplasia | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Abnormality of the cardiovascular system | Often (30–79%) |
| Disease of the heart muscle | Not recorded |
| Enlarged heart | Not recorded |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Birthmark | Sometimes (5–29%) |
| Small fingernail | Sometimes (5–29%) |
| port-wine stain | Not recorded |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Low-set ears | Very often (80–99%) |
| Indentation in back of outer ear | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Bulging eye | Not recorded |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Asthma | 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 CDKN1C and how often each is seen. Find out more at hpo.jax.org.
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