Traits

Traits linked to DYNC2I2

dynein 2 intermediate chain 2

The Human Phenotype Ontology links 76 traits to DYNC2I2, by body system: features seen in people with one of the gene's rare conditions.

DYNC2I2

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal maturation of the pelvis bone	Very often (80–99%)
Abnormal shape of pelvic girdle bone	Very often (80–99%)
Abnormal skeletal development	Very often (80–99%)
Abnormality of the ribs	Very often (80–99%)
Lethal skeletal dysplasia	Very often (80–99%)
Narrow chest	Very often (80–99%)
Short ribs	Very often (80–99%)
Shorter than typical length between neck and abdomen	Very often (80–99%)
Abnormal collarbone	Often (30–79%)
Abnormality of the sternum	Often (30–79%)
Absent or minimally ossified vertebral bodies	Often (30–79%)
Cone-shaped end part of bone	Often (30–79%)
Bell-shaped thorax	Not recorded
Hook-shaped collarbone	Not recorded
Horizontal ribs	Not recorded
Short long bone	Not recorded
Thoracic dysplasia	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Ambiguous external genitalia	Often (30–79%)
Double uterus	Often (30–79%)
Hydronephrosis	Often (30–79%)
Small kidneys	Often (30–79%)
Underdeveloped penis	Often (30–79%)
Undescended testes	Often (30–79%)
Urethrovaginal fistula	Often (30–79%)
Cystic kidney disease	Sometimes (5–29%)
Increased calcium level in kidney	Sometimes (5–29%)
Kidney damage	Sometimes (5–29%)
Nephronophthisis	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Often (30–79%)
Cleft upper lip	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Eye folds	Often (30–79%)
Frontal bossing	Often (30–79%)
Little lower jaw	Often (30–79%)
Long philtrum	Often (30–79%)
Wide nose	Often (30–79%)
Cleft of the face	Sometimes (5–29%)
Cleft tongue	Sometimes (5–29%)
Dandy-Walker malformation	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Abnormality of the wide portion of a long bone	Very often (80–99%)
Short foot	Very often (80–99%)
Short palm	Very often (80–99%)
Smaller or shorter than typical limbs	Very often (80–99%)
Extra little finger	Often (30–79%)
Short fingers or toes	Often (30–79%)
Extra thumb	Sometimes (5–29%)
Extra toe attached near the little toe	Sometimes (5–29%)
Fused toes	Sometimes (5–29%)
Postaxial polydactyly	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abdominal bloating	Very often (80–99%)
Excessive buildup of connective tissue and scarring of liver at birth	Often (30–79%)
Abnormal anus position	Sometimes (5–29%)
Abnormality of the liver	Sometimes (5–29%)
Absent anus	Sometimes (5–29%)
Birth defect in which part of esophagus did not develop	Sometimes (5–29%)
Feeding difficulties in infancy	Sometimes (5–29%)
Omphalocele	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Agenesis of corpus callosum	Sometimes (5–29%)
Delayed speech and language development	Sometimes (5–29%)
Small cerebellum	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Very often (80–99%)
Absent/small lungs	Sometimes (5–29%)
Bifid epiglottis	Sometimes (5–29%)
Poorly developed lungs	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormal retinal pigmentation	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Rod-cone dystrophy	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Disproportionate short-limb short stature	Very often (80–99%)
Obesity	Sometimes (5–29%)
Short stature	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Not recorded

Laboratory abnormality

Trait	How often it is seen
Hydrops fetalis	Often (30–79%)

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 DYNC2I2 and how often each is seen. Find out more at hpo.jax.org.

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