Traits

Traits linked to DYNC2LI1

dynein cytoplasmic 2 light intermediate chain 1

The Human Phenotype Ontology links 93 traits to DYNC2LI1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Extra little finger	Always
Postaxial polydactyly	Always
Duplication of bones of the toes	Very often (80–99%)
Extra finger	Very often (80–99%)
Knock knees	Very often (80–99%)
Short outermost finger bone	Very often (80–99%)
Smaller or shorter than typical limbs	Very often (80–99%)
Abnormality of the wide portion of a long bone	Often (30–79%)
Capitate-hamate fusion	Often (30–79%)
Short fingers or toes	Often (30–79%)
Short foot	Often (30–79%)
Extra toe attached near the little toe	Sometimes (5–29%)
Fused toes	Sometimes (5–29%)
Fusion of wrist bones	Sometimes (5–29%)
Outward turned elbows	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormal dentition	Very often (80–99%)
Abnormality of lining of mouth	Very often (80–99%)
Abnormal oral frenulum morphology	Often (30–79%)
Central cleft upper lip	Often (30–79%)
Cone shaped front tooth	Often (30–79%)
Decreased size of tooth	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
Eye folds	Often (30–79%)
Failure of development of between one and six teeth	Often (30–79%)
Decreased volume of lip	Sometimes (5–29%)
Delayed eruption of teeth	Sometimes (5–29%)
Accessory oral frenulum	Not recorded
Depressed nasal bridge	Not recorded
Extra teeth	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormality of the kidney	Often (30–79%)
Abnormality of the ureter	Often (30–79%)
Epispadias	Often (30–79%)
Hypospadias	Often (30–79%)
Undescended testes	Often (30–79%)
Abnormal morphology of female internal genitalia	Sometimes (5–29%)
Absent/small kidney	Sometimes (5–29%)
Hydroureter	Sometimes (5–29%)
Kidney damage	Sometimes (5–29%)
Nephronophthisis	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)
Abnormally closed or absent vagina	Not recorded
Horseshoe kidney	Not recorded
Hydrometrocolpos	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Cone-shaped end part of bone	Always
Horizontal ribs	Always
Narrow chest	Always
Short long bone	Always
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%)
Shorter than typical length between neck and abdomen	Very often (80–99%)
Abnormal collarbone	Often (30–79%)
Abnormality of the sternum	Often (30–79%)
Abnormality of the skeletal system	Sometimes (5–29%)
Delayed bone maturation	Sometimes (5–29%)
Short collarbone	Not recorded
Short ribs	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Very often (80–99%)
Abnormal heart valve morphology	Very often (80–99%)
Hole in center of heart	Very often (80–99%)
All organs on wrong side of body	Often (30–79%)
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Heart tip and four chambers point towards right side of body	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Increased spleen size	Not recorded
Narrowing of aorta	Not recorded
Patent ductus arteriosus	Not recorded

Abnormality of the integument

Trait	How often it is seen
Abnormal fingernails	Very often (80–99%)
Abnormality of the hair	Very often (80–99%)
Abnormality of the nail	Very often (80–99%)
Atypical nail growth	Very often (80–99%)
Underdeveloped toenails	Very often (80–99%)
Abnormal hair quantity	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Absent/small lungs	Often (30–79%)
Aplasia of the epiglottis	Often (30–79%)
Respiratory function loss	Often (30–79%)
Emphysema	Sometimes (5–29%)
Breathing difficulties	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Neonatal short-limb short stature	Very often (80–99%)
Prenatal growth deficiency	Often (30–79%)
Short stature	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormality of the liver	Sometimes (5–29%)
Feeding difficulties in infancy	Sometimes (5–29%)
Enlarged liver	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Acute blood cancer	Sometimes (5–29%)
Bone marrow disease	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Abnormal retinal pigmentation	Sometimes (5–29%)

Abnormal tissue mass

Trait	How often it is seen
Hamartoma	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Always

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)

Abnormality of the nervous system

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

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 DYNC2LI1 and how often each is seen. Find out more at hpo.jax.org.

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