Traits

Traits linked to ATAD1

ATPase family AAA domain containing 1

The Human Phenotype Ontology links 34 traits to ATAD1, 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
Epilepsy	Always
Abnormality of movement	Very often (80–99%)
Ataxia	Very often (80–99%)
Increased reflexes	Very often (80–99%)
Jerking	Very often (80–99%)
Muscle twitch	Very often (80–99%)
Abnormal gait	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Hypsarrhythmia	Often (30–79%)
Intellectual disability	Sometimes (5–29%)
Degeneration of cerebrum	Rarely (1–4%)
Encephalopathy	Not recorded
Global developmental delay	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Spasticity and rigidity of muscles	Always
Involuntary muscle stiffness, contraction, or spasm	Very often (80–99%)
Joint stiffness	Very often (80–99%)
Muscle stiffness	Very often (80–99%)
Rigidity	Very often (80–99%)
Hernia	Often (30–79%)
Joint dislocation	Sometimes (5–29%)
Distal arthrogryposis	Not recorded
Flexed joint that cannot be straightened	Not recorded
Kyphoscoliosis	Not recorded
Permanent flexion of the finger or toe	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Always
Acid reflux	Very often (80–99%)
Inflammation of the esophagus	Very often (80–99%)
Stomach hernia	Very often (80–99%)
Umbilical hernia	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Hip dislocation	Sometimes (5–29%)
Club feet	Not recorded
Inward turned thumb	Not recorded

Abnormality of head or neck

Trait	How often it is seen
High palate	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	Always

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 ATAD1 and how often each is seen. Find out more at hpo.jax.org.

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