Traits

Traits linked to DEGS1

delta 4-desaturase, sphingolipid 1

The Human Phenotype Ontology links 25 traits to DEGS1, 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
Delayed speech and language development	Always
Global developmental delay	Always
Abnormal motor nerve conduction velocity	Often (30–79%)
Absent speech development	Often (30–79%)
Epilepsy	Often (30–79%)
Decreased nerve conduction velocity	Rarely (1–4%)
Demyelinating peripheral neuropathy	Rarely (1–4%)
Abnormal periventricular white matter morphology	Not recorded
Atrophy/Degeneration affecting the brainstem	Not recorded
Babinski sign	Not recorded
Degeneration of cerebellum	Not recorded
Difficulty articulating speech	Not recorded
Dystonia	Not recorded
Lack of coordination of movement	Not recorded
Severe global developmental delay	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Very often (80–99%)
Flexed joint that cannot be straightened	Not recorded
Progressive spasticity	Not recorded
Scoliosis	Not recorded
Spastic tetraplegia	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Gastrostomy tube feeding in infancy	Often (30–79%)
Feeding difficulties	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Development of small head that was not present at birth	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	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 DEGS1 and how often each is seen. Find out more at hpo.jax.org.

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