Traits

Traits linked to NEB

nebulin

The Human Phenotype Ontology links 129 traits to NEB, by body system: features seen in people with one of the gene's rare conditions.

NEB

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthrogryposis multiplex congenita	Very often (80–99%)
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%)
Fatty replacement of skeletal muscle	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%)
Progressive distal muscle weakness	Often (30–79%)
Reduced spine movement	Often (30–79%)
Sternocleidomastoid amyotrophy	Often (30–79%)
Type 1 muscle fiber predominance	Often (30–79%)
Abnormality of the diaphragm	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%)
Frequent falls	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Generalized decreased muscle tone	Sometimes (5–29%)
Muscle fiber splitting	Sometimes (5–29%)
Narrow chest	Sometimes (5–29%)
Neck muscle weakness	Sometimes (5–29%)
Progressive proximal muscle weakness	Sometimes (5–29%)
Prominent swayback	Sometimes (5–29%)
Rimmed vacuoles	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Thin ribs	Sometimes (5–29%)
Tired easily	Sometimes (5–29%)
Hunched back	Rarely (1–4%)
Abnormality of the rib cage	Not recorded
Bulbar palsy	Not recorded
Congenital contracture	Not recorded
EMG: neuropathic changes	Not recorded
Late-onset distal muscle weakness	Not recorded
Proximal neurogenic muscle weakness	Not recorded

Abnormality of limbs

Trait	How often it is seen
Ankle flexion contracture	Often (30–79%)
Calf muscle pseudohypertrophy	Often (30–79%)
Foot drop	Often (30–79%)
Limb muscle weakness	Often (30–79%)
Limb-girdle muscle weakness	Often (30–79%)
Weakness of long finger extensor muscles	Often (30–79%)
Weakness of the intrinsic hand muscles	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%)
Thenar muscle atrophy	Sometimes (5–29%)
Winged shoulder blade	Sometimes (5–29%)
Hand clenching	Not recorded
Talipes	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Akinesia	Always
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%)
Difficulty articulating speech	Sometimes (5–29%)
Falls	Sometimes (5–29%)
High stepping	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Waddling gait	Sometimes (5–29%)
Inability to walk	Not recorded
Poor fine motor coordination	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Weakness of facial musculature	Very often (80–99%)
Bell's palsy	Often (30–79%)
High palate	Often (30–79%)
Myopathic facies	Often (30–79%)
Narrow mouth	Often (30–79%)
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%)
Cleft palate	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	Always
Breathing difficulties	Often (30–79%)
Respiratory function loss	Often (30–79%)
Exertional breathlessness	Sometimes (5–29%)
Nocturnal hypoventilation	Sometimes (5–29%)
Poorly developed lungs	Sometimes (5–29%)
Reduced vital capacity	Sometimes (5–29%)
Apnea	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Always
Feet or buttocks of fetus positioned near opening of uterus	Often (30–79%)
High levels of amniotic fluid	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%)
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%)

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 eye	Not recorded

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%)

Abnormal cellular phenotype

Trait	How often it is seen
Nemaline bodies	Always
Mitochondrial depletion	Not recorded

Abnormality of the genitourinary system

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

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

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