Traits

Traits linked to CIT

citron rho-interacting serine/threonine kinase

The Human Phenotype Ontology links 35 traits to CIT, 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
Delayed fine motor development	Always
Delayed motor skills	Always
Delayed social development	Always
Delayed speech and language development	Always
Global developmental delay	Always
Intellectual disability	Always
Simplified gyral pattern	Always
Gray matter heterotopia	Very often (80–99%)
Intellectual disability, severe	Very often (80–99%)
Underdevelopment of part of brain called corpus callosum	Very often (80–99%)
Agenesis of corpus callosum	Often (30–79%)
Fewer and broader ridges in brain	Often (30–79%)
Increased reflexes	Often (30–79%)
Underdeveloped frontal lobe	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Microlissencephaly	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Full lips	Always
Small head present at birth	Always
Abnormally small head	Very often (80–99%)
Sloping forehead	Very often (80–99%)
Thin red part of the upper lip	Very often (80–99%)
Upward slanting of the opening between the eyelids	Very often (80–99%)
Low frontal hairline	Sometimes (5–29%)
Bulbous nose	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Absent kidney on one side	Often (30–79%)
Vesicoureteral reflux	Often (30–79%)
Absent kidney	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal cortical bone morphology	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Very often (80–99%)
Short stature	Very often (80–99%)
Faltering weight	Not recorded

Abnormality of the ear

Trait	How often it is seen
Large ears	Always

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Not recorded

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

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