Traits

Traits linked to DLL4

delta like canonical Notch ligand 4

The Human Phenotype Ontology links 66 traits to DLL4, by body system: features seen in people with one of the gene's rare conditions.

DLL4

Abnormality of limbs

Trait	How often it is seen
Abnormality of the lower limb	Very often (80–99%)
Abnormality of the upper limb	Very often (80–99%)
Absent hand	Very often (80–99%)
Absent toe	Very often (80–99%)
Abnormal shape of long bones of hand	Often (30–79%)
Finger syndactyly	Often (30–79%)
Short fingers or toes	Often (30–79%)
Short outermost finger bone	Often (30–79%)
Split hand	Often (30–79%)
Talipes	Often (30–79%)
Fused toes	Sometimes (5–29%)
Webbed fingers or toes	Sometimes (5–29%)
Missing toes	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Cutis marmorata	Very often (80–99%)
Abnormal pulmonary valve morphology	Often (30–79%)
Pulmonary artery atresia	Often (30–79%)
Tetralogy of Fallot	Often (30–79%)
Arteriovenous malformation	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Sometimes (5–29%)
Portal hypertension	Sometimes (5–29%)
Redness of skin or mucous membrane	Sometimes (5–29%)
Increased spleen size	Rarely (1–4%)
Tricuspid regurgitation	Rarely (1–4%)
Truncus arteriosus	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Absence of part of skin at birth	Very often (80–99%)
Absent/small skin	Very often (80–99%)
Aplasia cutis congenita over the scalp vertex	Very often (80–99%)
Congenital localized absence of skin	Very often (80–99%)
Sparse hair	Very often (80–99%)
Focal absence of scalp tissue	Often (30–79%)
Open skin sore	Often (30–79%)
Absent fingernail	Sometimes (5–29%)
Absent/small toenails	Sometimes (5–29%)
Hair loss	Sometimes (5–29%)
Small fingernail	Sometimes (5–29%)
Underdeveloped toenails	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Spinal dysraphism	Very often (80–99%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Cavity within brain	Sometimes (5–29%)
EEG abnormality	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Periventricular leukomalacia	Sometimes (5–29%)
Tactile hypersensitivity	Sometimes (5–29%)
Weakness of one side of body	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
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%)
Scar tissue replaces healthy tissue in the liver	Sometimes (5–29%)
Hepatic fibrosis	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased blood leukocyte number	Sometimes (5–29%)
Gastrointestinal bleeding	Sometimes (5–29%)
Low platelet count	Sometimes (5–29%)
Prolonged bleeding time	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Cranial defect	Very often (80–99%)
Bell's palsy	Sometimes (5–29%)
Encephalocele	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Cross-eyed	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormality of bone mineral density	Sometimes (5–29%)
Spasticity and rigidity of muscles	Sometimes (5–29%)

Abnormality of prenatal development or birth

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

Abnormality of the genitourinary system

Trait	How often it is seen
Small kidneys	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)

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 DLL4 and how often each is seen. Find out more at hpo.jax.org.

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