Traits

Traits linked to FANCL

FA complementation group L

The Human Phenotype Ontology links 130 traits to FANCL, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Short penis	Altid
Abnormally shaped kidney	Ofte (30–79 %)
Absent kidney on one side	Ofte (30–79 %)
Absent uterus	Ofte (30–79 %)
Urinary tract abnormalities	Ofte (30–79 %)
Abnormal localisation of kidneys	Nogle gange (5–29 %)
Abnormal preputium morphology	Nogle gange (5–29 %)
Abnormality of the testis	Nogle gange (5–29 %)
Abnormality of the uterus	Nogle gange (5–29 %)
Absent sperm in semen	Nogle gange (5–29 %)
Absent testes	Nogle gange (5–29 %)
Absent/small kidney	Nogle gange (5–29 %)
Decreased fertility in males	Nogle gange (5–29 %)
Frequent urinary tract infections	Nogle gange (5–29 %)
Heart shaped uterus	Nogle gange (5–29 %)
Hydroureter	Nogle gange (5–29 %)
Hypospadias	Nogle gange (5–29 %)
Renal failure	Nogle gange (5–29 %)
Small kidneys	Nogle gange (5–29 %)
Undescended testes	Nogle gange (5–29 %)

Abnormality of head or neck

Trait	Hvor ofte det ses
Abnormally small head	Ofte (30–79 %)
Almond shaped eyes	Ofte (30–79 %)
Cleft palate	Ofte (30–79 %)
Depressed nasal tip	Ofte (30–79 %)
Little lower jaw	Ofte (30–79 %)
Short opening between the eyelids	Ofte (30–79 %)
Upward slanting of the opening between the eyelids	Ofte (30–79 %)
Webbed neck	Ofte (30–79 %)
Abnormality of the eyelid	Nogle gange (5–29 %)
Aplasia/Hypoplasia of the uvula	Nogle gange (5–29 %)
Blockage of the rear opening of the nasal cavity	Nogle gange (5–29 %)
Eye folds	Nogle gange (5–29 %)
Facial asymmetry	Nogle gange (5–29 %)
Frontal bossing	Nogle gange (5–29 %)
High palate	Nogle gange (5–29 %)
Long, narrow head	Nogle gange (5–29 %)
Short neck	Nogle gange (5–29 %)
Sloping forehead	Nogle gange (5–29 %)
Wide nasal bridge	Nogle gange (5–29 %)

Abnormality of limbs

Trait	Hvor ofte det ses
Absent thumb	Altid
Missing outer large bone of forearm	Altid
Abnormality of the thumb	Meget ofte (80–99 %)
Abnormality of the upper limb	Meget ofte (80–99 %)
Aplasia/Hypoplasia of the radius	Meget ofte (80–99 %)
Club foot on both sides	Ofte (30–79 %)
Abnormal feet structure	Nogle gange (5–29 %)
Abnormal morphology of ulna	Nogle gange (5–29 %)
Abnormality of the thighbone	Nogle gange (5–29 %)
Absent/small fingers	Nogle gange (5–29 %)
Clubbed toes	Nogle gange (5–29 %)
Curvature of little finger	Nogle gange (5–29 %)
Dropped arches	Nogle gange (5–29 %)
Finger syndactyly	Nogle gange (5–29 %)
Finger-like thumb	Nogle gange (5–29 %)
Fused toes	Nogle gange (5–29 %)
Hip dislocation	Nogle gange (5–29 %)
Underdeveloped inner large forearm bone	Nogle gange (5–29 %)

Abnormality of the eye

Trait	Hvor ofte det ses
Wide-set eyes	Ofte (30–79 %)
Abnormality of the eye	Nogle gange (5–29 %)
Abnormality of vision	Nogle gange (5–29 %)
Abnormally small eyeball	Nogle gange (5–29 %)
Absent/small iris	Nogle gange (5–29 %)
Astigmatism	Nogle gange (5–29 %)
Bulging eye	Nogle gange (5–29 %)
Clouding of the lens of the eye	Nogle gange (5–29 %)
Cross-eyed	Nogle gange (5–29 %)
Drooping upper eyelid	Nogle gange (5–29 %)
Involuntary, rapid, rhythmic eye movements	Nogle gange (5–29 %)
Visual impairment	Nogle gange (5–29 %)

Abnormality of the nervous system

Trait	Hvor ofte det ses
Attention deficit	Altid
Delayed CNS myelination	Altid
Global developmental delay	Altid
Intellectual disability	Ofte (30–79 %)
Small cerebellum	Ofte (30–79 %)
Too much cerebrospinal fluid in the brain	Ofte (30–79 %)
Abnormal shape of nervous system	Nogle gange (5–29 %)
Cranial nerve paralysis	Nogle gange (5–29 %)
Increased reflexes	Nogle gange (5–29 %)
Split spine	Nogle gange (5–29 %)
Ventriculomegaly	Nogle gange (5–29 %)

Abnormality of the cardiovascular system

Trait	Hvor ofte det ses
Abnormal cardiac septum morphology	Ofte (30–79 %)
Abnormal aortic morphology	Nogle gange (5–29 %)
Abnormal aortic valve morphology	Nogle gange (5–29 %)
Abnormal carotid artery morphology	Nogle gange (5–29 %)
An opening in the wall separating the top two chambers of the heart	Nogle gange (5–29 %)
Arteriovenous malformation	Nogle gange (5–29 %)
Enlarged and thickened heart muscle	Nogle gange (5–29 %)
Patent ductus arteriosus	Nogle gange (5–29 %)
Tetralogy of Fallot	Nogle gange (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Feeding difficulties	Altid
Abnormal connection between trachea and esophagus	Ofte (30–79 %)
Absent anus	Ofte (30–79 %)
Birth defect in which part of esophagus did not develop	Ofte (30–79 %)
Abnormality of the liver	Nogle gange (5–29 %)
Duodenal stenosis	Nogle gange (5–29 %)
Enlarged colon lacking nerve cells	Nogle gange (5–29 %)
Meckel diverticulum	Nogle gange (5–29 %)
Umbilical hernia	Nogle gange (5–29 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte det ses
Abnormality of blood and blood-forming tissues	Meget ofte (80–99 %)
Decreased blood leukocyte number	Meget ofte (80–99 %)
Low number of red blood cells or hemoglobin	Meget ofte (80–99 %)
Low platelet count	Meget ofte (80–99 %)
Pyridoxine-responsive sideroblastic anemia	Meget ofte (80–99 %)
Bone marrow failure	Nogle gange (5–29 %)
Myelodysplasia	Nogle gange (5–29 %)

Abnormality of the ear

Trait	Hvor ofte det ses
Absent ear	Ofte (30–79 %)
Low-set ears	Ofte (30–79 %)
Small ears	Ofte (30–79 %)
Abnormally shaped ears	Nogle gange (5–29 %)
Hearing abnormality	Nogle gange (5–29 %)
Hearing impairment	Nogle gange (5–29 %)

Abnormality of the integument

Trait	Hvor ofte det ses
Birthmark	Altid
Abnormal skin pigmentation	Meget ofte (80–99 %)
Irregular hyperpigmentation	Meget ofte (80–99 %)
Patchy loss of skin color	Meget ofte (80–99 %)
Multiple birthmarks	Nogle gange (5–29 %)

Growth abnormality

Trait	Hvor ofte det ses
Growth delay	Altid
Short stature	Meget ofte (80–99 %)
Prenatal growth deficiency	Ofte (30–79 %)
Weight loss	Nogle gange (5–29 %)

Abnormal cellular phenotype

Trait	Hvor ofte det ses
Chromosomal breakage induced by crosslinking agents	Altid
Chromosome breakage	Altid
Abnormality of chromosome stability	Meget ofte (80–99 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Scoliosis	Ofte (30–79 %)
Small sacrum	Ofte (30–79 %)
Low solidness and mass of the bones	Nogle gange (5–29 %)

Abnormality of the endocrine system

Trait	Hvor ofte det ses
Abnormality of the hypothalamus-pituitary axis	Nogle gange (5–29 %)
Decreased activity of gonads	Nogle gange (5–29 %)

Abnormal tissue mass

Trait	Hvor ofte det ses
Abnormal tissue mass	Ofte (30–79 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte det ses
Low levels of amniotic fluid	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 FANCL and how often each is seen. Find out more at hpo.jax.org.

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