Traits

Traits linked to ADSL

adenylosuccinate lyase

The Human Phenotype Ontology links 45 traits to ADSL, 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
Global developmental delay	Always
Absent speech development	Very often (80–99%)
Degeneration of cerebrum	Very often (80–99%)
Epilepsy	Very often (80–99%)
Hypointensity of cerebral white matter on MRI	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Severe global developmental delay	Very often (80–99%)
CNS hypomyelination	Often (30–79%)
Poor eye contact	Often (30–79%)
Happy demeanor	Sometimes (5–29%)
Paralysis on one side of body	Sometimes (5–29%)
Aggressive behavior	Not recorded
Autism	Not recorded
Brisk reflexes	Not recorded
Cerebral hypomyelination	Not recorded
Degeneration of cerebellum	Not recorded
Delayed speech and language development	Not recorded
Inability to coordinate movements when walking	Not recorded
Inability to walk	Not recorded
Inappropriate laughter	Not recorded
Jerking	Not recorded
More active than typical	Not recorded
Self-mutilation	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Thin red part of the upper lip	Always
Abnormal facial shape	Very often (80–99%)
Abnormally small head	Very often (80–99%)
Broad head shape	Very often (80–99%)
Flat back of skull	Very often (80–99%)
Long philtrum	Very often (80–99%)
Nasal tip, upturned	Very often (80–99%)
Prominent metopic ridge	Very often (80–99%)
Short nose	Very often (80–99%)
Smooth philtrum	Very often (80–99%)
Wide mouth	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Very often (80–99%)
Low muscle tone	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Not recorded
Muscle degeneration	Not recorded
Opisthotonus	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated urinary succinyladenosine level	Always
Elevated urinary succinylaminoimidazole carboxamide riboside level	Always

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Very often (80–99%)

Growth abnormality

Trait	How often it is seen
Growth delay	Not recorded

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

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