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	Hvor ofte det ses
Extra little finger	Altid
Postaxial polydactyly	Altid
Duplication of bones of the toes	Meget ofte (80–99 %)
Extra finger	Meget ofte (80–99 %)
Knock knees	Meget ofte (80–99 %)
Short outermost finger bone	Meget ofte (80–99 %)
Smaller or shorter than typical limbs	Meget ofte (80–99 %)
Abnormality of the wide portion of a long bone	Ofte (30–79 %)
Capitate-hamate fusion	Ofte (30–79 %)
Short fingers or toes	Ofte (30–79 %)
Short foot	Ofte (30–79 %)
Extra toe attached near the little toe	Nogle gange (5–29 %)
Fused toes	Nogle gange (5–29 %)
Fusion of wrist bones	Nogle gange (5–29 %)
Outward turned elbows	Nogle gange (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte det ses
Abnormal dentition	Meget ofte (80–99 %)
Abnormality of lining of mouth	Meget ofte (80–99 %)
Abnormal oral frenulum morphology	Ofte (30–79 %)
Central cleft upper lip	Ofte (30–79 %)
Cone shaped front tooth	Ofte (30–79 %)
Decreased size of tooth	Ofte (30–79 %)
Downward slanting of the opening between the eyelids	Ofte (30–79 %)
Eye folds	Ofte (30–79 %)
Failure of development of between one and six teeth	Ofte (30–79 %)
Decreased volume of lip	Nogle gange (5–29 %)
Delayed eruption of teeth	Nogle gange (5–29 %)
Accessory oral frenulum	Ikke registreret
Depressed nasal bridge	Ikke registreret
Extra teeth	Ikke registreret

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Abnormality of the kidney	Ofte (30–79 %)
Abnormality of the ureter	Ofte (30–79 %)
Epispadias	Ofte (30–79 %)
Hypospadias	Ofte (30–79 %)
Undescended testes	Ofte (30–79 %)
Abnormal morphology of female internal genitalia	Nogle gange (5–29 %)
Absent/small kidney	Nogle gange (5–29 %)
Hydroureter	Nogle gange (5–29 %)
Kidney damage	Nogle gange (5–29 %)
Nephronophthisis	Nogle gange (5–29 %)
Renal failure	Nogle gange (5–29 %)
Abnormally closed or absent vagina	Ikke registreret
Horseshoe kidney	Ikke registreret
Hydrometrocolpos	Ikke registreret

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Cone-shaped end part of bone	Altid
Horizontal ribs	Altid
Narrow chest	Altid
Short long bone	Altid
Abnormal shape of pelvic girdle bone	Meget ofte (80–99 %)
Abnormal skeletal development	Meget ofte (80–99 %)
Abnormality of the ribs	Meget ofte (80–99 %)
Shorter than typical length between neck and abdomen	Meget ofte (80–99 %)
Abnormal collarbone	Ofte (30–79 %)
Abnormality of the sternum	Ofte (30–79 %)
Abnormality of the skeletal system	Nogle gange (5–29 %)
Delayed bone maturation	Nogle gange (5–29 %)
Short collarbone	Ikke registreret
Short ribs	Ikke registreret

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
Abnormal cardiovascular system morphology	Meget ofte (80–99 %)
Abnormal heart valve morphology	Meget ofte (80–99 %)
Hole in center of heart	Meget ofte (80–99 %)
All organs on wrong side of body	Ofte (30–79 %)
An opening in the wall separating the top two chambers of the heart	Ofte (30–79 %)
Heart tip and four chambers point towards right side of body	Ofte (30–79 %)
Hole in heart wall separating two lower heart chambers	Ofte (30–79 %)
Increased spleen size	Ikke registreret
Narrowing of aorta	Ikke registreret
Patent ductus arteriosus	Ikke registreret

Abnormality of the integument

Trait	Hvor ofte det ses
Abnormal fingernails	Meget ofte (80–99 %)
Abnormality of the hair	Meget ofte (80–99 %)
Abnormality of the nail	Meget ofte (80–99 %)
Atypical nail growth	Meget ofte (80–99 %)
Underdeveloped toenails	Meget ofte (80–99 %)
Abnormal hair quantity	Nogle gange (5–29 %)

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Absent/small lungs	Ofte (30–79 %)
Aplasia of the epiglottis	Ofte (30–79 %)
Respiratory function loss	Ofte (30–79 %)
Emphysema	Nogle gange (5–29 %)
Breathing difficulties	Ikke registreret

Growth abnormality

Trait	Hvor ofte det ses
Faltering weight	Meget ofte (80–99 %)
Neonatal short-limb short stature	Meget ofte (80–99 %)
Prenatal growth deficiency	Ofte (30–79 %)
Short stature	Nogle gange (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Abnormality of the liver	Nogle gange (5–29 %)
Feeding difficulties in infancy	Nogle gange (5–29 %)
Enlarged liver	Ikke registreret

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte det ses
Acute blood cancer	Nogle gange (5–29 %)
Bone marrow disease	Nogle gange (5–29 %)

Abnormality of the eye

Trait	Hvor ofte det ses
Cross-eyed	Ofte (30–79 %)
Abnormal retinal pigmentation	Nogle gange (5–29 %)

Abnormal tissue mass

Trait	Hvor ofte det ses
Hamartoma	Ikke registreret

Abnormality of prenatal development or birth

Trait	Hvor ofte det ses
High levels of amniotic fluid	Altid

Abnormality of the ear

Trait	Hvor ofte det ses
Low-set ears	Ofte (30–79 %)

Abnormality of the nervous system

Trait	Hvor ofte det ses
Intellectual disability	Nogle gange (5–29 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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