Traits

Traits linked to ATIC

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

The Human Phenotype Ontology links 24 traits to ATIC, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Broad head shape	Always
Nasal tip, upturned	Always
Prominent forehead	Always
Prominent metopic ridge	Always
Prominent nasal bridge	Always
Thin red part of the upper lip	Always
Wide mouth	Always
Frontal bossing	Not recorded

Abnormality of the eye

Trait	How often it is seen
Blindness present at birth	Always
Inward turning cross eyed	Always
Optic atrophy	Always

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Always
IQ less than 20	Always
Intellectual disability, severe	Very often (80–99%)

Laboratory abnormality

Trait	How often it is seen
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level	Always
Low blood sodium levels	Always
Low blood sugar	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Enlarged clitoris	Always
Fused inner lips	Always

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Elevated erythrocyte AICA-ribotide concentration	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Secundum atrial septal defect	Always

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Always

Abnormality of the integument

Trait	How often it is seen
Skin dimple	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	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 ATIC and how often each is seen. Find out more at hpo.jax.org.

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