Traits

Traits linked to AGTPBP1

ATP/GTP binding carboxypeptidase 1

The Human Phenotype Ontology links 45 traits to AGTPBP1, 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
Ataxia	Always
Degeneration of cerebellum	Always
Global developmental delay	Always
Motor delay	Always
Absent/small cerebellum	Very often (80–99%)
Decreased reflex response	Very often (80–99%)
Degeneration of anterior horn cells	Very often (80–99%)
Motor axonal neuropathy	Very often (80–99%)
Absent speech development	Often (30–79%)
Dysplastic corpus callosum	Often (30–79%)
Dystonia	Often (30–79%)
Hypoplasia of the pons	Often (30–79%)
Tetraparesis	Often (30–79%)
Cerebellar cyst	Sometimes (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Generalized brain degeneration	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Peripheral axonal neuropathy	Sometimes (5–29%)
Thin corpus callosum	Sometimes (5–29%)
Inability to walk	Not recorded
Loss of developmental milestones	Not recorded
Poor eye contact	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)
Optic atrophy	Often (30–79%)
Progressive loss of vision	Often (30–79%)
Slow eye movements	Sometimes (5–29%)
Upgaze palsy	Sometimes (5–29%)
Inward turning cross eyed	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Muscle weakness	Always
Muscle degeneration	Very often (80–99%)
Decreased lung function due to weak breathing muscles	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Often (30–79%)
Type 1 muscle fiber predominance	Often (30–79%)
Arthrogryposis multiplex congenita	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Progressively abnormally small cranium	Often (30–79%)
Tongue twitching	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	Very often (80–99%)
Congenital laryngeal stridor	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Caesarean section	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	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 AGTPBP1 and how often each is seen. Find out more at hpo.jax.org.

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