Traits

Traits linked to HIC1

HIC ZBTB transcriptional repressor 1

The Human Phenotype Ontology links 18 traits to HIC1, 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
Decrease in size of the outer layer of the brain due to loss of brain cells	Very often (80–99%)
EEG abnormality	Very often (80–99%)
Epilepsy	Very often (80–99%)
Fewer or absent grooves in brain	Very often (80–99%)
Ataxia	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormality of upper lip	Very often (80–99%)
Eye folds	Very often (80–99%)
High forehead	Very often (80–99%)
Nasal tip, upturned	Very often (80–99%)
Short nose	Very often (80–99%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the cardiovascular system	Often (30–79%)

Abnormality of the digestive system

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

Abnormality of the genitourinary system

Trait	How often it is seen
Kidney damage	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Spinal dimple	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Very often (80–99%)

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 HIC1 and how often each is seen. Find out more at hpo.jax.org.

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