Traits

Traits linked to RBBP8

RB binding protein 8, endonuclease

The Human Phenotype Ontology links 54 traits to RBBP8, 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
Abnormally small tongue	Always
Decreased size of tooth	Always
Little lower jaw	Always
Sloping forehead	Always
Small head present at birth	Always
Abnormally small head	Very often (80–99%)
Beaked nose	Very often (80–99%)
Deformity of the skull	Very often (80–99%)
Narrow face	Very often (80–99%)
Abnormal tooth enamel	Often (30–79%)
Decreased number of teeth	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Sparse scalp hair	Often (30–79%)
Narrow forehead	Not recorded
Prominent nose	Not recorded
Receding chin	Not recorded

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Very often (80–99%)
Gap between 1st and 2nd toes	Very often (80–99%)
Absent fourth finger distal interphalangeal crease	Not recorded
Bunion	Not recorded
Postaxial polydactyly	Not recorded
Short middle bone of the little finger	Not recorded
Single interphalangeal crease of fifth finger	Not recorded
Webbed 4th-5th toes	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Basal ganglia calcification	Always
Cerebellar calcifications	Always
Delayed bone maturation	Very often (80–99%)
Abnormal formation of the hip	Often (30–79%)
Cone-shaped end part of bone	Often (30–79%)
Double-Jointed	Often (30–79%)
Scoliosis	Sometimes (5–29%)
Thoracic scoliosis	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
High pitched voice	Always
Intellectual disability	Always
Cognitive impairment	Very often (80–99%)
Mild global developmental delay	Very often (80–99%)
Aggressive behavior	Not recorded
Global developmental delay	Not recorded
Small cerebellum	Not recorded

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Short stature	Always
Small for gestational age	Always
Prenatal growth deficiency	Very often (80–99%)
Wasting syndrome	Very often (80–99%)

Abnormality of the integument

Trait	How often it is seen
Absent nails	Always
Prematurely aged appearance	Very often (80–99%)
Few cafe-au-lait spots	Not recorded

Abnormality of the ear

Trait	How often it is seen
Abnormal earlobe	Often (30–79%)
Absent earlobe	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Abnormally small eyeball	Always
Glaucoma	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal kidney location	Sometimes (5–29%)
Hypospadias	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Heart murmur	Not recorded

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 RBBP8 and how often each is seen. Find out more at hpo.jax.org.

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