Traits

Traits linked to HMGA2

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The Human Phenotype Ontology links 70 traits to HMGA2, by body system: features seen in people with one of the gene's rare conditions.

HMGA2

Abnormality of head or neck

Trait	How often it is seen
Prominent forehead	Always
Relatively large head	Always
Triangular face	Always
Little lower jaw	Very often (80–99%)
Cleft palate	Often (30–79%)
Abnormality of the nostrils	Sometimes (5–29%)
Abnormally small head	Sometimes (5–29%)
Decreased volume of lip	Sometimes (5–29%)
Downturned corners of mouth	Sometimes (5–29%)
Failure of development of between one and six teeth	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
Monobrow	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Thick eyebrow	Sometimes (5–29%)
Wide nose	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal scrotum morphology	Often (30–79%)
Hypospadias	Often (30–79%)
Abnormal kidney function	Sometimes (5–29%)
Abnormal kidney location	Sometimes (5–29%)
Cleft of scrotum	Sometimes (5–29%)
Horseshoe kidney	Sometimes (5–29%)
Microphallus	Sometimes (5–29%)
Painful menstruation	Sometimes (5–29%)
Small kidneys	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Intellectual disability, mild	Very often (80–99%)
Specific learning disability	Very often (80–99%)
Motor delay	Often (30–79%)
Tremor	Often (30–79%)
Attention deficit	Sometimes (5–29%)
Chiari malformation	Sometimes (5–29%)
Fluid-filled cyst in spinal cord	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Birth length less than 3rd percentile	Always
Prenatal growth deficiency	Always
Small for gestational age	Always
Faltering weight	Very often (80–99%)
Growth delay as children	Very often (80–99%)
Short stature	Very often (80–99%)
Uneven or disproportionate growth of one body part compared to another	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Very often (80–99%)
Short 5th finger	Often (30–79%)
Webbed fingers or toes	Often (30–79%)
Cleft hand	Sometimes (5–29%)
More than five fingers or toes on hands or feet	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Always
Osteopoikilosis	Often (30–79%)
Low muscle tone	Sometimes (5–29%)
Muscle degeneration	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Always
Gastrointestinal dysmotility	Sometimes (5–29%)
Inguinal hernia	Sometimes (5–29%)
Intestinal malrotation	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Firm lump under the skin	Very often (80–99%)
Patchy darkened skin	Often (30–79%)
Birthmark	Sometimes (5–29%)
Small fingernail	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Often (30–79%)
Small placenta	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the cardiovascular system	Often (30–79%)
Abnormality of the spleen	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Very often (80–99%)
Deeply set eye	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Diabetes mellitus	Sometimes (5–29%)
Low blood sugar	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Asthma	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 HMGA2 and how often each is seen. Find out more at hpo.jax.org.

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