Traits

Traits linked to KLHL40

kelch like family member 40

The Human Phenotype Ontology links 48 traits to KLHL40, 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
Muscle weakness	Always
Flexed joint that cannot be straightened	Very often (80–99%)
Abnormality of the chest	Often (30–79%)
Axial muscle weakness	Often (30–79%)
Increased connective tissue	Often (30–79%)
Low muscle tone, in neonatal onset	Often (30–79%)
Multiple fractures present at birth	Often (30–79%)
Muscle degeneration	Often (30–79%)
Severely decreased muscle tone	Often (30–79%)
Type 1 muscle fiber predominance	Often (30–79%)
Abnormality of the diaphragm	Sometimes (5–29%)
Arthrogryposis multiplex congenita	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Thin ribs	Sometimes (5–29%)
Myofibrillar myopathy	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Feet or buttocks of fetus positioned near opening of uterus	Often (30–79%)
High levels of amniotic fluid	Often (30–79%)
Less than 10 fetal movements in 12 hours	Often (30–79%)
Premature birth	Sometimes (5–29%)
Fetal akinesia sequence	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Decreased muscle movement	Often (30–79%)
Motor delay	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Falls	Sometimes (5–29%)
Tremor	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Bell's palsy	Always
Facial diplegia	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Wide fontanelles	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged heart	Sometimes (5–29%)
Heart stops beating	Sometimes (5–29%)
Stretched and thinned heart muscle	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Very often (80–99%)
Gastrostomy tube feeding in infancy	Often (30–79%)
Feeding difficulties in infancy	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Sometimes (5–29%)
Eye muscle paralysis	Sometimes (5–29%)
Weakness of muscles controlling eye movement	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	Very often (80–99%)
Breathing difficulties	Often (30–79%)
Poorly developed lungs	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Club feet	Sometimes (5–29%)
Inward turned thumb	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hypospadias	Sometimes (5–29%)
Short penis	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Nemaline bodies	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Edema of the dorsum of hands	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 KLHL40 and how often each is seen. Find out more at hpo.jax.org.

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