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	Kaip dažnai pasireiškia
Extra little finger	Visada
Postaxial polydactyly	Visada
Duplication of bones of the toes	Labai dažnai (80–99%)
Extra finger	Labai dažnai (80–99%)
Knock knees	Labai dažnai (80–99%)
Short outermost finger bone	Labai dažnai (80–99%)
Smaller or shorter than typical limbs	Labai dažnai (80–99%)
Abnormality of the wide portion of a long bone	Dažnai (30–79%)
Capitate-hamate fusion	Dažnai (30–79%)
Short fingers or toes	Dažnai (30–79%)
Short foot	Dažnai (30–79%)
Extra toe attached near the little toe	Kartais (5–29%)
Fused toes	Kartais (5–29%)
Fusion of wrist bones	Kartais (5–29%)
Outward turned elbows	Kartais (5–29%)

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Abnormal dentition	Labai dažnai (80–99%)
Abnormality of lining of mouth	Labai dažnai (80–99%)
Abnormal oral frenulum morphology	Dažnai (30–79%)
Central cleft upper lip	Dažnai (30–79%)
Cone shaped front tooth	Dažnai (30–79%)
Decreased size of tooth	Dažnai (30–79%)
Downward slanting of the opening between the eyelids	Dažnai (30–79%)
Eye folds	Dažnai (30–79%)
Failure of development of between one and six teeth	Dažnai (30–79%)
Decreased volume of lip	Kartais (5–29%)
Delayed eruption of teeth	Kartais (5–29%)
Accessory oral frenulum	Neužfiksuota
Depressed nasal bridge	Neužfiksuota
Extra teeth	Neužfiksuota

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Abnormality of the kidney	Dažnai (30–79%)
Abnormality of the ureter	Dažnai (30–79%)
Epispadias	Dažnai (30–79%)
Hypospadias	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Abnormal morphology of female internal genitalia	Kartais (5–29%)
Absent/small kidney	Kartais (5–29%)
Hydroureter	Kartais (5–29%)
Kidney damage	Kartais (5–29%)
Nephronophthisis	Kartais (5–29%)
Renal failure	Kartais (5–29%)
Abnormally closed or absent vagina	Neužfiksuota
Horseshoe kidney	Neužfiksuota
Hydrometrocolpos	Neužfiksuota

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Cone-shaped end part of bone	Visada
Horizontal ribs	Visada
Narrow chest	Visada
Short long bone	Visada
Abnormal shape of pelvic girdle bone	Labai dažnai (80–99%)
Abnormal skeletal development	Labai dažnai (80–99%)
Abnormality of the ribs	Labai dažnai (80–99%)
Shorter than typical length between neck and abdomen	Labai dažnai (80–99%)
Abnormal collarbone	Dažnai (30–79%)
Abnormality of the sternum	Dažnai (30–79%)
Abnormality of the skeletal system	Kartais (5–29%)
Delayed bone maturation	Kartais (5–29%)
Short collarbone	Neužfiksuota
Short ribs	Neužfiksuota

Abnormality of the cardiovascular system

Trait	Kaip dažnai pasireiškia
Abnormal cardiovascular system morphology	Labai dažnai (80–99%)
Abnormal heart valve morphology	Labai dažnai (80–99%)
Hole in center of heart	Labai dažnai (80–99%)
All organs on wrong side of body	Dažnai (30–79%)
An opening in the wall separating the top two chambers of the heart	Dažnai (30–79%)
Heart tip and four chambers point towards right side of body	Dažnai (30–79%)
Hole in heart wall separating two lower heart chambers	Dažnai (30–79%)
Increased spleen size	Neužfiksuota
Narrowing of aorta	Neužfiksuota
Patent ductus arteriosus	Neužfiksuota

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Abnormal fingernails	Labai dažnai (80–99%)
Abnormality of the hair	Labai dažnai (80–99%)
Abnormality of the nail	Labai dažnai (80–99%)
Atypical nail growth	Labai dažnai (80–99%)
Underdeveloped toenails	Labai dažnai (80–99%)
Abnormal hair quantity	Kartais (5–29%)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Absent/small lungs	Dažnai (30–79%)
Aplasia of the epiglottis	Dažnai (30–79%)
Respiratory function loss	Dažnai (30–79%)
Emphysema	Kartais (5–29%)
Breathing difficulties	Neužfiksuota

Growth abnormality

Trait	Kaip dažnai pasireiškia
Faltering weight	Labai dažnai (80–99%)
Neonatal short-limb short stature	Labai dažnai (80–99%)
Prenatal growth deficiency	Dažnai (30–79%)
Short stature	Kartais (5–29%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Abnormality of the liver	Kartais (5–29%)
Feeding difficulties in infancy	Kartais (5–29%)
Enlarged liver	Neužfiksuota

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Acute blood cancer	Kartais (5–29%)
Bone marrow disease	Kartais (5–29%)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Cross-eyed	Dažnai (30–79%)
Abnormal retinal pigmentation	Kartais (5–29%)

Abnormal tissue mass

Trait	Kaip dažnai pasireiškia
Hamartoma	Neužfiksuota

Abnormality of prenatal development or birth

Trait	Kaip dažnai pasireiškia
High levels of amniotic fluid	Visada

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Low-set ears	Dažnai (30–79%)

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Intellectual disability	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

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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