Traits

Traits linked to SUZ12

SUZ12 polycomb repressive complex 2 subunit

The Human Phenotype Ontology links 58 traits to SUZ12, 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
Big calvaria	Very often (80–99%)
Broad forehead	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Long philtrum	Very often (80–99%)
Receding chin	Very often (80–99%)
Deep philtrum	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Prominent brow	Often (30–79%)
Prominent forehead	Often (30–79%)
Round face	Often (30–79%)
Big lower jaw	Sometimes (5–29%)
Wide nasal ridge	Not recorded

Abnormality of limbs

Trait	How often it is seen
Abnormality of the wide portion of a long bone	Very often (80–99%)
Broad foot	Often (30–79%)
Broad thumb	Often (30–79%)
Large hands	Often (30–79%)
Permanent flexion of the finger	Often (30–79%)
Club feet	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
Gap between 1st and 2nd toes	Sometimes (5–29%)
High-arched foot	Sometimes (5–29%)
Curvature of digit	Not recorded
Long foot	Not recorded

Abnormality of the integument

Trait	How often it is seen
Abnormal fingernails	Very often (80–99%)
Deep-set nails	Very often (80–99%)
Loose redundant skin	Very often (80–99%)
Thin nail	Very often (80–99%)
Underdeveloped toenails	Very often (80–99%)
Fine hair	Often (30–79%)
Beauty mark	Sometimes (5–29%)
Excessive hair growth	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Advanced bone age	Very often (80–99%)
Involuntary muscle stiffness, contraction, or spasm	Very often (80–99%)
Spasticity and rigidity of muscles	Very often (80–99%)
Generalized decreased muscle tone	Often (30–79%)
Joint stiffness	Often (30–79%)
Double-Jointed	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Permanent flexion of the finger or toe	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormally low-pitched voice	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Agenesis of corpus callosum	Sometimes (5–29%)
More grooves in brain	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Often (30–79%)
Inguinal hernia	Often (30–79%)
Umbilical hernia	Often (30–79%)
Anteriorly placed anus	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
General overgrowth	Very often (80–99%)
Tall stature	Very often (80–99%)
Birth length greater than 97th percentile	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Very often (80–99%)
Large ears	Very often (80–99%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Often (30–79%)
Underdeveloped penis	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Very often (80–99%)

Abnormality of the voice

Trait	How often it is seen
Hoarse voice	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 SUZ12 and how often each is seen. Find out more at hpo.jax.org.

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