Traits

Traits linked to CNBP

CCHC-type zinc finger nucleic acid binding protein

The Human Phenotype Ontology links 49 traits to CNBP, by body system: features seen in people with one of the gene's rare conditions.

CNBP

Abnormality of the musculoskeletal system

Trait	How often it is seen
Diffuse skeletal muscle wasting	Always
Handgrip myotonia	Always
Proximal neurogenic muscle weakness	Always
Sternocleidomastoid amyotrophy	Always
Axial muscle weakness	Very often (80–99%)
Muscle degeneration	Very often (80–99%)
Myotonia	Very often (80–99%)
Muscle stiffness	Often (30–79%)
Neck flexion weakness	Not recorded
Type 2 muscle fiber atrophy	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Decreased reflex response	Always
Periventricular white matter hyperintensities	Always
Brisk reflexes	Sometimes (5–29%)
Cognitive impairment	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
Excessive daytime sleepiness	Sometimes (5–29%)
Obstructive sleep apnea	Sometimes (5–29%)
Willis-Ekbom disease	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Complete right bundle branch block	Always
Extra heart beat	Always
Cardiac conduction abnormality	Sometimes (5–29%)
Disease of the heart muscle	Sometimes (5–29%)
Elevated heart rate	Not recorded
Palpitations	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Abnormal thyroid function	Sometimes (5–29%)
Decreased function of male gonad	Sometimes (5–29%)
Decreased activity of gonads	Not recorded
Elevated circulating follicle stimulating hormone level	Not recorded

Laboratory abnormality

Trait	How often it is seen
Noninsulin-dependent diabetes	Always
Insulin insensitivity	Often (30–79%)
Elevated lipids in blood	Sometimes (5–29%)
Elevated blood creatine phosphokinase	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating IgG concentration	Always
Decreased circulating antibody level	Often (30–79%)
Decreased circulating IgM concentration	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Abdominal pain	Often (30–79%)
Constipation	Often (30–79%)
Poor swallowing	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Posterior subcapsular cataract	Always
Clouding of the lens of the eye	Very often (80–99%)
Iridescent posterior subcapsular cataract	Not recorded

Abnormality of the integument

Trait	How often it is seen
Excessive sweating	Sometimes (5–29%)
Frontal balding	Not recorded

Constitutional symptom

Trait	How often it is seen
Muscle ache	Very often (80–99%)
Fatigue	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Weakness of facial musculature	Always

Abnormality of limbs

Trait	How often it is seen
Increased size of calf muscles	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Low sperm count	Not recorded

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

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