Traits

Traits linked to WDR19

WD repeat domain 19

The Human Phenotype Ontology links 121 traits to WDR19, by body system: features seen in people with one of the gene's rare conditions.

WDR19

Abnormality of the genitourinary system

Trait	How often it is seen
Absent sperm axoneme central pair complex	Always
Absent sperm flagella	Always
Chronic tubulointerstitial nephritis	Always
Coiled sperm flagella	Always
Global glomerulosclerosis	Always
Glomerular subepithelial immune-complex deposits	Always
Glomerulonephritis	Always
Irregularly shaped sperm tail	Always
Male infertility	Always
Multilamellation of medullary peritubular capillary basement membranes	Always
Nephronophthisis	Always
Reduced progressive sperm motility	Always
Short sperm flagella	Always
Small kidneys	Always
Stage 5 chronic kidney disease	Always
Chronic kidney disease	Very often (80–99%)
Early menopause	Often (30–79%)
Glomerular sclerosis	Often (30–79%)
Renal interstitial fibrosis	Often (30–79%)
Kidney damage	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Acetabular spurs	Always
Broad outermost finger bone	Always
Broad shaft of long bone	Always
Broad wide portion of long bone	Always
Disproportionately short upper portion of limb	Always
Pes valgus	Always
Short fingers or toes	Always
Short foot	Always
Wide toe bones	Always
Abnormal shape of shaft of long bone	Very often (80–99%)
Abnormality of the wide portion of a long bone	Very often (80–99%)
Short outermost finger bone	Very often (80–99%)
Smaller or shorter than typical limbs	Very often (80–99%)
Finger syndactyly	Often (30–79%)
Webbed fingers	Often (30–79%)
Curvature of little finger	Sometimes (5–29%)
Extra little finger	Sometimes (5–29%)
Extra toe attached near the little toe	Sometimes (5–29%)
Fused toes	Sometimes (5–29%)
More than five fingers or toes on hands or feet	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Full cheeks	Always
Thin red part of the upper lip	Always
Wide nasal bridge	Always
Abnormal dentition	Very often (80–99%)
Decreased size of tooth	Very often (80–99%)
Eye folds	Very often (80–99%)
Frontal bossing	Very often (80–99%)
Long, narrow head	Very often (80–99%)
Prominent back of the head	Very often (80–99%)
Decreased volume of lip	Often (30–79%)
Deformity of the skull	Often (30–79%)
Drooping lower lip	Often (30–79%)
Early closure of midline skull joint	Often (30–79%)
Failure of development of between one and six teeth	Often (30–79%)
Nasal tip, upturned	Often (30–79%)
Smooth philtrum	Often (30–79%)
Taurodontia	Often (30–79%)
Abnormal tooth enamel	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal formation of the hip	Always
Double-Jointed	Always
Funnel chest	Always
Narrow chest	Always
Short pelvis bones	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%)
Osteoporosis	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%)
Cone-shaped end part of bone	Often (30–79%)
Low muscle tone, in neonatal onset	Often (30–79%)
Abnormality of bone mineral density	Sometimes (5–29%)
Thoracic dysplasia	Not recorded

Abnormality of the eye

Trait	How often it is seen
Close sighted	Always
Clouding of the lens of the eye	Always
Farsightedness	Always
Rod-cone dystrophy	Always
Visual impairment	Always
Abnormal retinal pigmentation	Very often (80–99%)
Breakdown of light-sensitive cells in back of eye	Very often (80–99%)
Abnormally close eyes	Often (30–79%)
Difficulties with night vision	Often (30–79%)
Progressive loss of vision	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Severe farsightedness	Sometimes (5–29%)
Decreased clarity of vision	Not recorded
Macular atrophy	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always
Inguinal hernia	Always
Intrahepatic bile duct dilatation	Always
Liver cysts	Often (30–79%)
Abnormality of the liver	Sometimes (5–29%)
Excessive buildup of connective tissue and scarring of liver at birth	Sometimes (5–29%)
Feeding difficulties in infancy	Sometimes (5–29%)
Pancreatic cysts	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Hanging skin	Always
Abnormal fingernails	Very often (80–99%)
Abnormality of the toenail	Very often (80–99%)
Sparse hair	Very often (80–99%)
Thick nail	Often (30–79%)
Paleness	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Narrowing of blood vessels in back of eye	Always
High blood pressure	Very often (80–99%)
Aneurysm	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Very often (80–99%)
Ataxia	Sometimes (5–29%)
Subdural hygroma	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Stiff lung or chest wall causing decreased lung volume	Always
Respiratory function loss	Often (30–79%)
Absent/small lungs	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated creatinine	Always
High urine protein levels	Always
Mild proteinuria	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Short stature	Always
Growth delay	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bone marrow failure	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Accessory nipple	Always

Abnormality of the ear

Trait	How often it is seen
Prominent ear	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent pneumonia	Often (30–79%)

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 WDR19 and how often each is seen. Find out more at hpo.jax.org.

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