Traits

Traits linked to ADAT3

adenosine deaminase tRNA specific 3

The Human Phenotype Ontology links 76 traits to ADAT3, by body system: features seen in people with one of the gene's rare conditions.

ADAT3

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Eye folds	Often (30–79%)
Prominent forehead	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Asymmetry of the posterior head	Sometimes (5–29%)
Corners of eye widely separated	Sometimes (5–29%)
Facial asymmetry	Sometimes (5–29%)
Full lips	Sometimes (5–29%)
High forehead	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Long face	Sometimes (5–29%)
Monobrow	Sometimes (5–29%)
Narrow nasal ridge	Sometimes (5–29%)
Prominent nose	Sometimes (5–29%)
Short neck	Sometimes (5–29%)
Short nose	Sometimes (5–29%)
Sloping forehead	Sometimes (5–29%)
Wide mouth	Sometimes (5–29%)
Abnormal dentition	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Intellectual disability	Always
Abnormal shape of brain	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Global developmental delay	Often (30–79%)
Aggressive behavior	Sometimes (5–29%)
Brain degeneration	Sometimes (5–29%)
Delayed CNS myelination	Sometimes (5–29%)
Delayed myelination	Sometimes (5–29%)
Diffuse demyelination of the cerebral white matter	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Sometimes (5–29%)
Impulsivity	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)
Abnormal gait	Rarely (1–4%)
Agenesis of corpus callosum	Rarely (1–4%)
Balance impairment	Rarely (1–4%)
Peripheral neuropathy	Rarely (1–4%)
Underdevelopment of part of brain called corpus callosum	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Club feet	Sometimes (5–29%)
Rocker bottom foot	Sometimes (5–29%)
Shortening of the achilles tendon	Sometimes (5–29%)
Congenital finger flexion contractures	Rarely (1–4%)
Joint contracture of the hand	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Decreased muscle tone in infant	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Low muscle tone	Often (30–79%)
Limitation of joint mobility	Sometimes (5–29%)
Congenital diaphragmatic hernia	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Sometimes (5–29%)
Recurrent gastroenteritis	Sometimes (5–29%)
Chronic constipation	Rarely (1–4%)
Feeding difficulties	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)
Large ears	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)
Recurrent middle ear infection	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hypospadias	Sometimes (5–29%)
Medullary nephrocalcinosis	Sometimes (5–29%)
Short penis	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased circulating insulin-like growth factor 1 concentration	Sometimes (5–29%)
Decreased response to growth hormone stimulation test	Sometimes (5–29%)
Underactive thyroid	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Very often (80–99%)
Inward turning cross eyed	Very often (80–99%)
Wide-set eyes	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Short stature	Often (30–79%)
Prenatal growth deficiency	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Decreased ability to sweat	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 ADAT3 and how often each is seen. Find out more at hpo.jax.org.

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