Traits

Traits linked to SNF8

SNF8 subunit of ESCRT-II

The Human Phenotype Ontology links 26 traits to SNF8, 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
Degeneration of cerebellum	Always
Delayed speech and language development	Always
Intellectual disability	Always
Leukoencephalopathy	Always
Generalized brain degeneration	Very often (80–99%)
Agenesis of corpus callosum	Often (30–79%)
Cerebellar cortical atrophy	Often (30–79%)
EEG abnormality	Often (30–79%)
Epilepsy	Often (30–79%)
Global developmental delay	Often (30–79%)
Mild global developmental delay	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Ataxia	Sometimes (5–29%)
Dysplastic corpus callosum	Sometimes (5–29%)
Fewer and broader ridges in brain	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormality of visual evoked potentials	Always
Involuntary, rapid, rhythmic eye movements	Always
Optic nerve hypoplasia	Always
Optic atrophy	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Poor swallowing	Always
Tube feeding	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Conductive deafness	Sometimes (5–29%)

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 SNF8 and how often each is seen. Find out more at hpo.jax.org.

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