Traits

Traits linked to DYNC1I2

dynein cytoplasmic 1 intermediate chain 2

The Human Phenotype Ontology links 29 traits to DYNC1I2, 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
Aggressive behavior	Always
Attention deficit	Always
Delayed speech and language development	Always
Difficulty articulating speech	Always
Epilepsy	Always
Global developmental delay	Always
Intellectual disability, severe	Always
Motor delay	Always
Simplified gyral pattern	Always
Absent septum pellucidum	Often (30–79%)
Agenesis of corpus callosum	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Degeneration of cerebrum	Not recorded
Delayed ability to walk	Not recorded
Inability to walk	Not recorded
Increased reflexes	Not recorded
Severe global developmental delay	Not recorded
Small brainstem	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Bulbous nose	Always
Nasal tip, upturned	Always
Upward slanting of the opening between the eyelids	Always
Prominent nose	Not recorded
Sloping forehead	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Not recorded
Involuntary muscle stiffness, contraction, or spasm	Not recorded

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Not recorded

Abnormality of the voice

Trait	How often it is seen
Nasal speech	Not recorded

Growth abnormality

Trait	How often it is seen
Short stature	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 DYNC1I2 and how often each is seen. Find out more at hpo.jax.org.

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