Traits

Traits linked to DHODH

dihydroorotate dehydrogenase (quinone)

The Human Phenotype Ontology links 39 traits to DHODH, 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
Cleft eyelid	Very often (80–99%)
Downward slanting of the opening between the eyelids	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Lower eyelid folded out	Very often (80–99%)
Zygomatic flattening	Very often (80–99%)
Cleft palate	Often (30–79%)
Non-midline cleft of the upper lip	Often (30–79%)
Blockage of the rear opening of the nasal cavity	Not recorded
Cleft upper lip	Not recorded
Cone shaped tooth	Not recorded
Everted eyelid	Not recorded

Abnormality of limbs

Trait	How often it is seen
Underdeveloped inner large forearm bone	Very often (80–99%)
Underdeveloped outer large forearm bone	Very often (80–99%)
Finger syndactyly	Often (30–79%)
Permanent flexion of the finger	Often (30–79%)
Abnormal feet structure	Not recorded
Dislocated hip since birth	Not recorded
Fused forearm bones	Not recorded
Short thumb	Not recorded
Webbed fingers or toes	Not recorded

Abnormality of the ear

Trait	How often it is seen
Cupped ear	Very often (80–99%)
Ears rotated toward back of head	Very often (80–99%)
Small ears	Very often (80–99%)
Abnormality of the middle ear	Often (30–79%)
Conductive deafness	Often (30–79%)
Low-set ears	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the kidney	Not recorded
Short penis	Not recorded
Undescended testes	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Midgut malrotation	Not recorded
Pyloric stenosis	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Funnel chest	Not recorded
Supernumerary vertebrae	Not recorded

Growth abnormality

Trait	How often it is seen
Growth delay	Not recorded
Growth delay as children	Not recorded

Abnormality of the breast

Trait	How often it is seen
Accessory nipple	Very often (80–99%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormal fingerprints	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 DHODH and how often each is seen. Find out more at hpo.jax.org.

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