Traits

Traits linked to KLHL41

kelch like family member 41

The Human Phenotype Ontology links 100 traits to KLHL41, by body system: features seen in people with one of the gene's rare conditions.

KLHL41

Abnormality of the musculoskeletal system

Trait	How often it is seen
EMG: myopathic abnormalities	Very often (80–99%)
Generalized muscle weakness	Very often (80–99%)
Muscle tissue disease	Very often (80–99%)
Severely decreased muscle tone	Very often (80–99%)
Abnormality of the chest	Often (30–79%)
Axial muscle weakness	Often (30–79%)
Fatigable weakness of distal limb muscles	Often (30–79%)
Flexed joint that cannot be straightened	Often (30–79%)
Generalized muscle wasting	Often (30–79%)
Increased connective tissue	Often (30–79%)
Increased variability in muscle fiber diameter	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%)
Muscle stiffness	Often (30–79%)
Neck flexion weakness	Often (30–79%)
Reduced spine movement	Often (30–79%)
Type 1 muscle fiber predominance	Often (30–79%)
Abnormality of the diaphragm	Sometimes (5–29%)
Arthrogryposis multiplex congenita	Sometimes (5–29%)
Decreased lung function due to weak breathing muscles	Sometimes (5–29%)
Fatigable weakness of bulbar muscles	Sometimes (5–29%)
Fatigable weakness of respiratory muscles	Sometimes (5–29%)
Fatiguable weakness of proximal limb muscles	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Generalized decreased muscle tone	Sometimes (5–29%)
Narrow chest	Sometimes (5–29%)
Neck muscle weakness	Sometimes (5–29%)
Prominent swayback	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Thin ribs	Sometimes (5–29%)
Hunched back	Rarely (1–4%)
Muscle weakness	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Bell's palsy	Often (30–79%)
High palate	Often (30–79%)
Myopathic facies	Often (30–79%)
Cleft palate	Sometimes (5–29%)
Facial diplegia	Sometimes (5–29%)
High, narrow palate	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Long face	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Narrow face	Sometimes (5–29%)
Short neck	Sometimes (5–29%)
Wide fontanelles	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Often (30–79%)
Clumsiness	Often (30–79%)
Decreased muscle movement	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%)
Falls	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Waddling gait	Sometimes (5–29%)
Poor fine motor coordination	Not recorded

Abnormality of limbs

Trait	How often it is seen
Foot drop	Often (30–79%)
Limb muscle weakness	Often (30–79%)
Limb-girdle muscle weakness	Often (30–79%)
Club feet	Sometimes (5–29%)
High-arched foot	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Inward turned thumb	Sometimes (5–29%)
Knock knees	Sometimes (5–29%)
Outward bow-leggedness	Sometimes (5–29%)
Winged shoulder blade	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Often (30–79%)
Respiratory failure	Often (30–79%)
Respiratory function loss	Often (30–79%)
Nocturnal hypoventilation	Sometimes (5–29%)
Poorly developed lungs	Sometimes (5–29%)
Reduced vital capacity	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	Often (30–79%)
High levels of amniotic fluid	Often (30–79%)
Less than 10 fetal movements in 12 hours	Often (30–79%)
Fetal akinesia sequence	Sometimes (5–29%)
Premature birth	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Disease of the heart muscle	Sometimes (5–29%)
Enlarged heart	Sometimes (5–29%)
Heart stops beating	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)
Stretched and thinned heart muscle	Sometimes (5–29%)

Abnormality of the digestive system

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

Laboratory abnormality

Trait	How often it is seen
Increased muscle lipid content	Often (30–79%)
Edema of the dorsum of hands	Sometimes (5–29%)
Elevated blood creatine phosphokinase	Sometimes (5–29%)
Mildly elevated creatine kinase	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%)
Wide-set eyes	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	Very often (80–99%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	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 KLHL41 and how often each is seen. Find out more at hpo.jax.org.

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