Traits

Traits linked to RPL17

ribosomal protein L17

The Human Phenotype Ontology links 47 traits to RPL17, 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
Eye folds	Always
High forehead	Always
High palate	Always
Receding chin	Always
Short chin	Always
Triangular face	Always
Little lower jaw	Often (30–79%)
Submucous cleft palate	Often (30–79%)
Zygomatic flattening	Often (30–79%)
Cleft palate	Sometimes (5–29%)
Full lips	Sometimes (5–29%)
Pierre-Robin sequence	Sometimes (5–29%)
Retraction of the tongue	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Blood cancer	Always
Bone marrow failure	Always
Decreased blood leukocyte number	Always
Erythroid dysplasia	Always
Increased mean corpuscular volume	Always
Low blood cell count	Always
Low number of red blood cells or hemoglobin	Always
Low blood neutrophil count	Often (30–79%)
Low platelet count	Often (30–79%)
Macrocytic anemia	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Clinodactyly of the 5th toe	Always
Curvature of little finger	Always
Interphalangeal thumb joint contracture	Always
Short thumb	Always
Talipes varus	Always
Thumb hypoplasia grade 4	Always
Short 5th finger	Often (30–79%)
Absent thumb	Sometimes (5–29%)
Metacarpophalangeal thumb joint contracture	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)
Sensorineural hearing impairment	Often (30–79%)
Absent ear canal	Sometimes (5–29%)
Small ears	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Vomiting	Always
Inguinal hernia	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Attention deficit	Always
Autism	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Short stature	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Fever	Always
Low blood sugar	Always

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Perineal fistula	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Funnel chest	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 RPL17 and how often each is seen. Find out more at hpo.jax.org.

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