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	How often it is seen
Short penis	Always
Abnormally shaped kidney	Often (30–79%)
Absent kidney on one side	Often (30–79%)
Absent uterus	Often (30–79%)
Urinary tract abnormalities	Often (30–79%)
Abnormal localisation of kidneys	Sometimes (5–29%)
Abnormal preputium morphology	Sometimes (5–29%)
Abnormality of the testis	Sometimes (5–29%)
Abnormality of the uterus	Sometimes (5–29%)
Absent sperm in semen	Sometimes (5–29%)
Absent testes	Sometimes (5–29%)
Absent/small kidney	Sometimes (5–29%)
Decreased fertility in males	Sometimes (5–29%)
Frequent urinary tract infections	Sometimes (5–29%)
Heart shaped uterus	Sometimes (5–29%)
Hydroureter	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)
Small kidneys	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)

Abnormality of head or neck

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

Abnormality of limbs

Trait	How often it is seen
Absent thumb	Always
Missing outer large bone of forearm	Always
Abnormality of the thumb	Very often (80–99%)
Abnormality of the upper limb	Very often (80–99%)
Aplasia/Hypoplasia of the radius	Very often (80–99%)
Club foot on both sides	Often (30–79%)
Abnormal feet structure	Sometimes (5–29%)
Abnormal morphology of ulna	Sometimes (5–29%)
Abnormality of the thighbone	Sometimes (5–29%)
Absent/small fingers	Sometimes (5–29%)
Clubbed toes	Sometimes (5–29%)
Curvature of little finger	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
Finger-like thumb	Sometimes (5–29%)
Fused toes	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Underdeveloped inner large forearm bone	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Often (30–79%)
Abnormality of the eye	Sometimes (5–29%)
Abnormality of vision	Sometimes (5–29%)
Abnormally small eyeball	Sometimes (5–29%)
Absent/small iris	Sometimes (5–29%)
Astigmatism	Sometimes (5–29%)
Bulging eye	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Attention deficit	Always
Delayed CNS myelination	Always
Global developmental delay	Always
Intellectual disability	Often (30–79%)
Small cerebellum	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Abnormal shape of nervous system	Sometimes (5–29%)
Cranial nerve paralysis	Sometimes (5–29%)
Increased reflexes	Sometimes (5–29%)
Split spine	Sometimes (5–29%)
Ventriculomegaly	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiac septum morphology	Often (30–79%)
Abnormal aortic morphology	Sometimes (5–29%)
Abnormal aortic valve morphology	Sometimes (5–29%)
Abnormal carotid artery morphology	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Arteriovenous malformation	Sometimes (5–29%)
Enlarged and thickened heart muscle	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Abnormal connection between trachea and esophagus	Often (30–79%)
Absent anus	Often (30–79%)
Birth defect in which part of esophagus did not develop	Often (30–79%)
Abnormality of the liver	Sometimes (5–29%)
Duodenal stenosis	Sometimes (5–29%)
Enlarged colon lacking nerve cells	Sometimes (5–29%)
Meckel diverticulum	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormality of blood and blood-forming tissues	Very often (80–99%)
Decreased blood leukocyte number	Very often (80–99%)
Low number of red blood cells or hemoglobin	Very often (80–99%)
Low platelet count	Very often (80–99%)
Pyridoxine-responsive sideroblastic anemia	Very often (80–99%)
Bone marrow failure	Sometimes (5–29%)
Myelodysplasia	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Absent ear	Often (30–79%)
Low-set ears	Often (30–79%)
Small ears	Often (30–79%)
Abnormally shaped ears	Sometimes (5–29%)
Hearing abnormality	Sometimes (5–29%)
Hearing impairment	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Birthmark	Always
Abnormal skin pigmentation	Very often (80–99%)
Irregular hyperpigmentation	Very often (80–99%)
Patchy loss of skin color	Very often (80–99%)
Multiple birthmarks	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	Always
Short stature	Very often (80–99%)
Prenatal growth deficiency	Often (30–79%)
Weight loss	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Chromosomal breakage induced by crosslinking agents	Always
Chromosome breakage	Always
Abnormality of chromosome stability	Very often (80–99%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Scoliosis	Often (30–79%)
Small sacrum	Often (30–79%)
Low solidness and mass of the bones	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Abnormality of the hypothalamus-pituitary axis	Sometimes (5–29%)
Decreased activity of gonads	Sometimes (5–29%)

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	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 FANCL and how often each is seen. Find out more at hpo.jax.org.

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