Traits

Traits linked to CHRND

cholinergic receptor nicotinic delta subunit

The Human Phenotype Ontology links 51 traits to CHRND, 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: decremental response of compound muscle action potential to repetitive nerve stimulation	Always
Fatigable weakness	Always
Generalized muscle weakness	Always
Increased muscle fatiguability	Always
Low muscle tone	Always
Poor head control	Always
Tired easily	Always
Abnormal neck curve	Not recorded
Absent muscles since birth	Not recorded
Flexed joint that cannot be straightened	Not recorded
Increased susceptibility to fractures	Not recorded
Joint dislocation	Not recorded
Low muscle tone, in neonatal onset	Not recorded
Muscle weakness	Not recorded
Neck muscle weakness	Not recorded
Thin ribs	Not recorded
Vertebral fusion	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Bell's palsy	Always
High palate	Always
Weakness of facial musculature	Always
Abnormal facial shape	Not recorded
Cleft palate	Not recorded
Cystic hygroma	Not recorded
Eye folds	Not recorded
Flat nose	Not recorded
Little lower jaw	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Decreased miniature endplate potentials	Always
Delayed ability to sit	Always
Loss of ability to walk	Always
Motor delay	Always
Prolonged miniature endplate currents	Always
Akinesia	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Sometimes (5–29%)
Fetal akinesia sequence	Not recorded
High levels of amniotic fluid	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Poor suck	Always
Poor swallowing	Always

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Always
Eye muscle paralysis	Always
Wide-set eyes	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Always
Poorly developed lungs	Not recorded

Laboratory abnormality

Trait	How often it is seen
Fluid retention	Not recorded
Malignant hyperthermia	Not recorded

Abnormality of limbs

Trait	How often it is seen
Short finger	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Underdeveloped cardiac ventricle	Not recorded

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Not recorded

Abnormality of the integument

Trait	How often it is seen
Multiple pterygia	Not recorded

Abnormality of the voice

Trait	How often it is seen
Weak cry	Always

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	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 CHRND and how often each is seen. Find out more at hpo.jax.org.

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