Traits

Traits linked to CNOT3

CCR4-NOT transcription complex subunit 3

The Human Phenotype Ontology links 40 traits to CNOT3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

Trait	How often it is seen
Prominent forehead	Often (30–79%)
Asymmetry of the posterior head	Sometimes (5–29%)
Big lower jaw	Sometimes (5–29%)
Broad head shape	Sometimes (5–29%)
Downturned corners of mouth	Sometimes (5–29%)
Enlarged cisterna magna	Sometimes (5–29%)
Flat nose	Sometimes (5–29%)
Long, narrow head	Sometimes (5–29%)
Low hairline at back of neck	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Prominent back of the head	Sometimes (5–29%)
Short philtrum	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)
Zygomatic flattening	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed ability to walk	Very often (80–99%)
Autism spectrum disorder	Often (30–79%)
Delayed CNS myelination	Sometimes (5–29%)
Thick corpus callosum	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Delayed fine motor development	Not recorded
Delayed motor skills	Not recorded
Global developmental delay	Not recorded
Intellectual disability	Not recorded

Abnormality of the eye

Trait	How often it is seen
Abnormally close eyes	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Deeply set eye	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Small hand	Sometimes (5–29%)
Tapered finger	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Conductive deafness	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Abnormal formation of the hip	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	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 CNOT3 and how often each is seen. Find out more at hpo.jax.org.

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