Traits

Traits linked to ZIC4

Zic family zinc finger 4

The Human Phenotype Ontology links 20 traits to ZIC4, 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
Too much cerebrospinal fluid in the brain	Very often (80–99%)
Aplasia/Hypoplasia of the cerebellar vermis	Often (30–79%)
Dilated fourth ventricle	Often (30–79%)
Small cerebellum	Often (30–79%)
Aplasia/Hypoplasia of the corpus callosum	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Motor delay	Sometimes (5–29%)
Rise in pressure inside skull	Sometimes (5–29%)
Instability or lack of coordination of central trunk muscles	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Very often (80–99%)
Dandy-Walker malformation	Very often (80–99%)
Flattening of the skull base	Very often (80–99%)
Prominent back of the head	Very often (80–99%)
Enlarged posterior fossa	Often (30–79%)
Frontal bossing	Often (30–79%)
Cleft palate	Sometimes (5–29%)
Encephalocele	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Enlarged fetal cisterna magna	Often (30–79%)
Mild fetal ventriculomegaly	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Rarely (1–4%)

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 ZIC4 and how often each is seen. Find out more at hpo.jax.org.

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