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Traits
Traits linked to DCDC2
doublecortin domain containing 2
The Human Phenotype Ontology links 52 traits to DCDC2, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Enlarged liver | Always |
| Jaundice | Always |
| Liver failure | Always |
| Portal fibrosis | Always |
| Sclerosing cholangitis | Always |
| Slowed or blocked flow of bile from liver | Always |
| Bile duct proliferation | Often (30–79%) |
| Ductal bile plugs | Often (30–79%) |
| Hepatic bridging fibrosis | Often (30–79%) |
| Hepatic fibrosis | Often (30–79%) |
| Malformation of the hepatic ductal plate | Often (30–79%) |
| Reduced number of intrahepatic bile ducts | Often (30–79%) |
| Scar tissue replaces healthy tissue in the liver | Often (30–79%) |
| Accumulation of fluid in the abdomen | Sometimes (5–29%) |
| Enlarged vein in esophagus | Sometimes (5–29%) |
| Excessive buildup of connective tissue and scarring of liver at birth | Sometimes (5–29%) |
| Biliary cirrhosis | Not recorded |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Abnormal renal interstitial morphology | Often (30–79%) |
| Chronic kidney disease | Often (30–79%) |
| Hyperechogenic kidneys | Often (30–79%) |
| Nephronophthisis | Often (30–79%) |
| Reduced renal corticomedullary differentiation | Often (30–79%) |
| Renal corticomedullary cysts | Often (30–79%) |
| Renal interstitial fibrosis | Often (30–79%) |
| Small kidneys | Often (30–79%) |
| Stage 5 chronic kidney disease | Often (30–79%) |
| Thickening of the tubular basement membrane | Often (30–79%) |
| Tubular luminal dilatation | Often (30–79%) |
| Kidney degeneration | Sometimes (5–29%) |
| Vesicoureteral reflux | Sometimes (5–29%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Extreme thirst | Often (30–79%) |
| Abnormal cerebral white matter morphology | Sometimes (5–29%) |
| Aggressive behavior | Sometimes (5–29%) |
| Agitation | Sometimes (5–29%) |
| Attention deficit | Sometimes (5–29%) |
| Diffuse cerebral atrophy | Sometimes (5–29%) |
| Intellectual disability, mild | Sometimes (5–29%) |
| Suicidal ideation | Sometimes (5–29%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Elevated gamma-glutamyltransferase level | Always |
| Abnormal urinary electrolyte concentration | Often (30–79%) |
| Clay colored stools | Often (30–79%) |
| Elevated alkaline phosphatase | Often (30–79%) |
| High bili total | Often (30–79%) |
| High liver enzymes | Often (30–79%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Increased spleen size | Always |
| Portal hypertension | Always |
| Enlarged liver and spleen | Often (30–79%) |
| High blood pressure | Often (30–79%) |
| Carotid artery dilatation | Sometimes (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Low number of red blood cells or hemoglobin | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Sensorineural hearing impairment | Always |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Itching | 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 DCDC2 and how often each is seen. Find out more at hpo.jax.org.
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