Traits

Traits linked to KBTBD13

kelch repeat and BTB domain containing 13

The Human Phenotype Ontology links 50 traits to KBTBD13, 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
EMG: myopathic abnormalities	Very often (80–99%)
Muscle tissue disease	Very often (80–99%)
Generalized muscle wasting	Often (30–79%)
Increased variability in muscle fiber diameter	Often (30–79%)
Muscle stiffness	Often (30–79%)
Reduced spine movement	Often (30–79%)
Type 1 muscle fiber predominance	Often (30–79%)
Decreased lung function due to weak breathing muscles	Sometimes (5–29%)
Fatigable weakness of bulbar muscles	Sometimes (5–29%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Generalized decreased muscle tone	Sometimes (5–29%)
Narrow chest	Sometimes (5–29%)
Neck muscle weakness	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Arthrogryposis multiplex congenita	Rarely (1–4%)
Difficulty running	Not recorded
Difficulty walking up stairs	Not recorded
Muscle degeneration	Not recorded
Neck flexion weakness	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Often (30–79%)
Clumsiness	Often (30–79%)
Decreased reflex response	Often (30–79%)
Motor delay	Often (30–79%)
Slow movements	Often (30–79%)
Absent reflexes	Sometimes (5–29%)
Bulbar signs	Sometimes (5–29%)
Waddling gait	Sometimes (5–29%)
Poor fine motor coordination	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Facial diplegia	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Long face	Sometimes (5–29%)
Narrow face	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Limb muscle weakness	Often (30–79%)
High-arched foot	Sometimes (5–29%)
Winged shoulder blade	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Feet or buttocks of fetus positioned near opening of uterus	Sometimes (5–29%)
Fetal akinesia sequence	Sometimes (5–29%)
High levels of amniotic fluid	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Neuromuscular dysphagia	Often (30–79%)
Feeding difficulties	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Sometimes (5–29%)
Drooping upper eyelid	Rarely (1–4%)

Laboratory abnormality

Trait	How often it is seen
Increased muscle lipid content	Often (30–79%)
Mildly elevated creatine kinase	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Nemaline bodies	Very often (80–99%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Disease of the heart muscle	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Reduced vital capacity	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Decreased ability to exercise	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Slender build	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 KBTBD13 and how often each is seen. Find out more at hpo.jax.org.

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