Traits

Traits linked to CSNK2A1

casein kinase 2 alpha 1

The Human Phenotype Ontology links 45 traits to CSNK2A1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Delayed ability to walk	Always
Global developmental delay	Always
Intellectual disability	Very often (80–99%)
Ataxia	Often (30–79%)
Attention deficit	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Fewer and broader ridges in brain	Often (30–79%)
Frequent temper tantrums	Often (30–79%)
Absent speech development	Sometimes (5–29%)
Recurrent hand flapping	Sometimes (5–29%)
Simplified gyral pattern	Sometimes (5–29%)
Sudden loss of muscle tone	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Eye folds	Often (30–79%)
High palate	Often (30–79%)
Highly arched eyebrow	Often (30–79%)
Epicanthus inversus	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Monobrow	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Protruding tongue	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)
Wide nasal bridge	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Broad big toe	Sometimes (5–29%)
Curvature of little finger	Sometimes (5–29%)
Short fingers or toes	Sometimes (5–29%)
Single transverse palmar crease	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Constipation	Often (30–79%)
Feeding difficulties	Often (30–79%)
Inguinal hernia	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating antibody level	Sometimes (5–29%)
Decreased circulating IgA concentration	Sometimes (5–29%)
Decreased circulating IgG concentration	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)
Overfolded ears	Often (30–79%)
Cupped ear	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Double-Jointed	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Sometimes (5–29%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
High levels of amniotic fluid	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)

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 CSNK2A1 and how often each is seen. Find out more at hpo.jax.org.

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