Traits

Traits linked to SUMF1

sulfatase modifying factor 1

The Human Phenotype Ontology links 49 traits to SUMF1, 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
Abnormality of peripheral nerve conduction	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Loss of developmental milestones	Very often (80–99%)
Rapid neurologic deterioration	Very often (80–99%)
Epilepsy	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Abnormal periventricular white matter morphology	Not recorded
Ataxia	Not recorded
CNS demyelination	Not recorded
Degeneration of cerebellum	Not recorded
Degeneration of cerebrum	Not recorded
Overactive lower leg reflex	Not recorded
Peripheral demyelination	Not recorded
Ventriculomegaly	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Often (30–79%)
Coarse facial features	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Smooth philtrum	Often (30–79%)
Thick eyebrow	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Flat face	Not recorded
Large forehead	Not recorded
Periorbital edema	Not recorded
Prominent forehead	Not recorded

Abnormality of the eye

Trait	How often it is seen
Visual impairment	Very often (80–99%)
Abnormal retinal pigmentation	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Corneal opacity	Often (30–79%)
Optic atrophy	Often (30–79%)
Retina degeneration	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone, in neonatal onset	Very often (80–99%)
Joint stiffness	Often (30–79%)
Dysostosis multiplex	Not recorded
Involuntary muscle stiffness, contraction, or spasm	Not recorded
Underdeveloped back bones	Not recorded

Abnormality of limbs

Trait	How often it is seen
Broad bone of big toe	Often (30–79%)
Broad thumb	Often (30–79%)
Broad big toe	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Often (30–79%)
Hearing impairment	Not recorded

Abnormality of the integument

Trait	How often it is seen
Ichthyosis	Very often (80–99%)
Coarse hair	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Mucopolysacchariduria	Very often (80–99%)
Increased CSF protein concentration	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Very often (80–99%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Very often (80–99%)

Growth abnormality

Trait	How often it is seen
Short stature	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 SUMF1 and how often each is seen. Find out more at hpo.jax.org.

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