Traits

Traits linked to ATAD3A

ATPase family AAA domain containing 3A

The Human Phenotype Ontology links 62 traits to ATAD3A, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Encephalopathy	Always
Global developmental delay	Always
Intellectual disability	Very often (80–99%)
Degeneration of cerebellum	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Epilepsy	Often (30–79%)
Peripheral axonal neuropathy	Often (30–79%)
Poor speech	Often (30–79%)
Reduced brain N-acetyl aspartate level by MRS	Often (30–79%)
Small cerebellum	Often (30–79%)
Brief seizures with staring spells	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Inability to coordinate movements when walking	Sometimes (5–29%)
Ataxia	Not recorded
Dysplastic corpus callosum	Not recorded
Inability to walk	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big lower jaw	Sometimes (5–29%)
Frontal bossing	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Long face	Sometimes (5–29%)
Short nose	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Narrow mouth	Not recorded
Nasal tip, upturned	Not recorded
Sparse eyebrow	Not recorded
Wide nasal bridge	Not recorded

Abnormality of the eye

Trait	How often it is seen
Close sighted	Often (30–79%)
Inward turning cross eyed	Often (30–79%)
Optic atrophy	Often (30–79%)
Clouding of the lens of the eye	Sometimes (5–29%)
Clouding of the lens of the eye at birth	Sometimes (5–29%)
Corneal opacity	Sometimes (5–29%)
Deeply set eye	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Optic nerve hypoplasia	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Always
Low muscle tone	Always
Low muscle tone in trunk	Very often (80–99%)
Lower limb amyotrophy	Often (30–79%)
Spastic walk	Often (30–79%)
Abnormal formation of the hip	Sometimes (5–29%)
Distal muscle wasting	Sometimes (5–29%)
Pigeon chest	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always
Feeding difficulties	Often (30–79%)
Feeding difficulties in infancy	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Sometimes (5–29%)
Hydrocele testis	Not recorded
Short penis	Not recorded

Laboratory abnormality

Trait	How often it is seen
Decreased circulating cholesterol level	Always
Higher than normal levels of lactate in blood	Very often (80–99%)
3-Methylglutaconic aciduria	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Positional foot deformity	Sometimes (5–29%)
Talipes equinovalgus	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Fetal distress	Often (30–79%)
High levels of amniotic fluid	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged and thickened heart muscle	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Delayed puberty	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Brittle hair	Often (30–79%)

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 ATAD3A and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test