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	나타나는 빈도
Encephalopathy	항상
Global developmental delay	항상
Intellectual disability	매우 자주 (80–99%)
Degeneration of cerebellum	자주 (30–79%)
Delayed speech and language development	자주 (30–79%)
Epilepsy	자주 (30–79%)
Peripheral axonal neuropathy	자주 (30–79%)
Poor speech	자주 (30–79%)
Reduced brain N-acetyl aspartate level by MRS	자주 (30–79%)
Small cerebellum	자주 (30–79%)
Brief seizures with staring spells	가끔 (5–29%)
Difficulty sleeping	가끔 (5–29%)
Dystonia	가끔 (5–29%)
Inability to coordinate movements when walking	가끔 (5–29%)
Ataxia	기록되지 않음
Dysplastic corpus callosum	기록되지 않음
Inability to walk	기록되지 않음

Trait	나타나는 빈도
Big lower jaw	가끔 (5–29%)
Frontal bossing	가끔 (5–29%)
High forehead	가끔 (5–29%)
Little lower jaw	가끔 (5–29%)
Long face	가끔 (5–29%)
Short nose	가끔 (5–29%)
Upward slanting of the opening between the eyelids	가끔 (5–29%)
Narrow mouth	기록되지 않음
Nasal tip, upturned	기록되지 않음
Sparse eyebrow	기록되지 않음
Wide nasal bridge	기록되지 않음

Trait	나타나는 빈도
Close sighted	자주 (30–79%)
Inward turning cross eyed	자주 (30–79%)
Optic atrophy	자주 (30–79%)
Clouding of the lens of the eye	가끔 (5–29%)
Clouding of the lens of the eye at birth	가끔 (5–29%)
Corneal opacity	가끔 (5–29%)
Deeply set eye	가끔 (5–29%)
Involuntary, rapid, rhythmic eye movements	가끔 (5–29%)
Optic nerve hypoplasia	가끔 (5–29%)

Trait	나타나는 빈도
Involuntary muscle stiffness, contraction, or spasm	항상
Low muscle tone	항상
Low muscle tone in trunk	매우 자주 (80–99%)
Lower limb amyotrophy	자주 (30–79%)
Spastic walk	자주 (30–79%)
Abnormal formation of the hip	가끔 (5–29%)
Distal muscle wasting	가끔 (5–29%)
Pigeon chest	가끔 (5–29%)
Scoliosis	가끔 (5–29%)

Trait	나타나는 빈도
Enlarged liver	항상
Feeding difficulties	자주 (30–79%)
Feeding difficulties in infancy	자주 (30–79%)

Trait	나타나는 빈도
Decreased circulating cholesterol level	항상
Higher than normal levels of lactate in blood	매우 자주 (80–99%)
3-Methylglutaconic aciduria	가끔 (5–29%)

Trait	나타나는 빈도
Positional foot deformity	가끔 (5–29%)
Talipes equinovalgus	가끔 (5–29%)

Trait	나타나는 빈도
Fetal distress	자주 (30–79%)
High levels of amniotic fluid	자주 (30–79%)

Trait	나타나는 빈도
Enlarged and thickened heart muscle	자주 (30–79%)

Trait	나타나는 빈도
Delayed puberty	가끔 (5–29%)

Trait	나타나는 빈도
Brittle hair	자주 (30–79%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

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.

$449부터배송비 무료 · 결과는 6~8주 내 제공