Traits

Traits linked to CNOT1

CCR4-NOT transcription complex subunit 1

The Human Phenotype Ontology links 23 traits to CNOT1, 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
Abnormality of the external nose	Sometimes (5–29%)
Cheekbone underdevelopment	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Only one upper front tooth	Sometimes (5–29%)
Prominent back of the head	Sometimes (5–29%)
Sloping forehead	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal shape of brain	Often (30–79%)
Agenesis of corpus callosum	Often (30–79%)
Holoprosencephaly	Often (30–79%)
Semilobar holoprosencephaly	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Decreased circulating C-peptide concentration	Often (30–79%)
Decreased circulating lipoprotein lipase concentration	Often (30–79%)
Hypoamylasemia	Often (30–79%)
Neonatal insulin-dependent diabetes mellitus	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Absent gallbladder	Often (30–79%)
Absent pancreas	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Abnormally shaped ears	Sometimes (5–29%)
Low-set ears	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Often (30–79%)
Small for gestational age	Often (30–79%)

Abnormality of limbs

Trait	How often it is seen
Absent/small thumb bones	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Abnormally close eyes	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Low blood oxygen level	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 CNOT1 and how often each is seen. Find out more at hpo.jax.org.

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