Traits

Traits linked to POLR1D

RNA polymerase I and III subunit D

The Human Phenotype Ontology links 75 traits to POLR1D, 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
Abnormal facial shape	Very often (80–99%)
Cheekbone underdevelopment	Very often (80–99%)
Decreased size of maxilla	Very often (80–99%)
Downward slanting of the opening between the eyelids	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Midface retrusion	Very often (80–99%)
Open bite	Very often (80–99%)
Receding chin	Very often (80–99%)
Short face	Very often (80–99%)
Zygomatic flattening	Very often (80–99%)
Abnormal dentition	Often (30–79%)
Absent eyelashes	Often (30–79%)
Bad bite	Often (30–79%)
Cleft eyelid	Often (30–79%)
Cleft lower eyelid	Often (30–79%)
Cleft palate	Often (30–79%)
Decreased number of teeth	Often (30–79%)
Frontal bossing	Often (30–79%)
Low frontal hairline	Often (30–79%)
Small retruded chin	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Abnormal lacrimal duct morphology	Sometimes (5–29%)
Abnormal tooth enamel	Sometimes (5–29%)
Abnormality of dental shape	Sometimes (5–29%)
Blockage of the rear opening of the nasal cavity	Sometimes (5–29%)
Branchial fistula	Sometimes (5–29%)
Broad head shape	Sometimes (5–29%)
Cleft of the face	Sometimes (5–29%)
Cleft upper lip	Sometimes (5–29%)
Encephalocele	Sometimes (5–29%)
Eyelid spasm	Sometimes (5–29%)
Hair growing down to cheek	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Narrow mouth	Sometimes (5–29%)
Narrowing of the rear opening of the nasal cavity	Sometimes (5–29%)
Pit in front of the ear	Sometimes (5–29%)
Retraction of the tongue	Sometimes (5–29%)
Skin tag in front of the ear	Sometimes (5–29%)
Wide mouth	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Abnormality of the middle ear	Often (30–79%)
Abnormality of the outer ear	Often (30–79%)
Absent ear canal	Often (30–79%)
Conductive deafness	Often (30–79%)
Ears rotated toward back of head	Often (30–79%)
Narrow internal auditory canal	Often (30–79%)
Small ears	Often (30–79%)
Absent ear	Sometimes (5–29%)
Fusion of middle ear ossicles	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cat eye	Often (30–79%)
Cross-eyed	Often (30–79%)
Visual impairment	Often (30–79%)
Abnormally small eyeball	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal skeletal development	Very often (80–99%)
Abnormality of bone mineral density	Very often (80–99%)
Abnormality of the vertebral column	Sometimes (5–29%)
Multiple enchondromatosis	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Often (30–79%)
Difficulty finding words	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Small thymus	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormal connection between rectum and vagina	Sometimes (5–29%)
Abnormal connection between trachea and esophagus	Sometimes (5–29%)
Feeding difficulties in infancy	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Smaller than typical growth of scrotum	Sometimes (5–29%)
Underdeveloped penis	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Adrenal abnormalities	Sometimes (5–29%)
Small thyroid gland	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	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 POLR1D and how often each is seen. Find out more at hpo.jax.org.

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