Traits

Traits linked to SNIP1

Smad nuclear interacting protein 1

The Human Phenotype Ontology links 30 traits to SNIP1, 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
CNS hypomyelination	Always
Decreased reflex response	Always
Epilepsy	Always
Severe global developmental delay	Always
Underdevelopment of part of brain called corpus callosum	Always
Ventriculomegaly	Always
Abnormal cerebral white matter morphology	Not recorded
EEG abnormality	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Broad jaw	Always
Bulbous nose	Always
Exaggerated cupid's bow	Always
High palate	Always
Wide mouth	Always
Little lower jaw	Sometimes (5–29%)
Abnormally large tongue	Not recorded

Abnormality of limbs

Trait	How often it is seen
Broad thumb	Always
Short palm	Often (30–79%)
Tapered finger	Often (30–79%)
Club feet	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Aortic valve has two leaflets rather than three	Not recorded
Narrowing of aortic valve	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Umbilical hernia	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Not recorded
Horizontal nystagmus	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Softening of voice box tissue	Often (30–79%)
Subglottic stenosis	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always

Growth abnormality

Trait	How often it is seen
Small for gestational age	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Low blood sugar	Sometimes (5–29%)

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 SNIP1 and how often each is seen. Find out more at hpo.jax.org.

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