Traits

Traits linked to FUZ

fuzzy planar cell polarity protein

The Human Phenotype Ontology links 38 traits to FUZ, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal iliac wing morphology	Very often (80–99%)
Abnormal shape of pelvic girdle bone	Very often (80–99%)
Abnormal vertebral segmentation and fusion	Very often (80–99%)
Absent/small sacrum	Very often (80–99%)
Decreased muscle mass	Very often (80–99%)
Underdeveloped back bones	Very often (80–99%)
Joint stiffness	Often (30–79%)
Scoliosis	Often (30–79%)
Missing ribs	Sometimes (5–29%)
Absence of the sacrum	Not recorded
Asymmetry of spinal facet joints	Not recorded
Fatty lump	Not recorded
Multiple fatty lumps	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal kidney location	Often (30–79%)
Abnormality of the ureter	Often (30–79%)
Absent kidney	Often (30–79%)
Double ureter	Often (30–79%)
Vesicoureteral reflux	Often (30–79%)
Ambiguous external genitalia	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)
Loss of bladder control	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Impulsivity	Very often (80–99%)
Diminished deep tendon reflex	Often (30–79%)
Arrhinencephaly	Sometimes (5–29%)
Chiari malformation	Sometimes (5–29%)
Anencephaly	Not recorded
Myelomeningocele	Not recorded
Spina bifida occulta	Not recorded
Too much cerebrospinal fluid in the brain	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Often (30–79%)
High blood pressure	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Loss of bowel control	Very often (80–99%)
Absent anus	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Cleft of the mouth	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Club feet	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Spinal dimple	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Poorly developed lungs	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 FUZ and how often each is seen. Find out more at hpo.jax.org.

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