Traits

Traits linked to CHAMP1

chromosome alignment maintaining phosphoprotein 1

The Human Phenotype Ontology links 40 traits to CHAMP1, 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
Delayed speech and language development	Always
Global developmental delay	Always
Intellectual disability	Always
Motor delay	Always
Overfriendliness	Always
Impaired pain sensation	Very often (80–99%)
Absent speech development	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Incoordination	Often (30–79%)
Obstructive sleep apnea	Often (30–79%)
Repetitive movements	Often (30–79%)
Brain degeneration	Sometimes (5–29%)
Delayed CNS myelination	Sometimes (5–29%)
Inability to coordinate movements when walking	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Drooping lower lip	Always
High palate	Always
Short philtrum	Always
Tented mouth	Always
Decreased facial muscle tone	Very often (80–99%)
Drooling	Very often (80–99%)
Open mouth	Very often (80–99%)
Thin red part of the upper lip	Very often (80–99%)
Abnormally small head	Often (30–79%)
Asymmetry of the posterior head	Often (30–79%)
Eye folds	Often (30–79%)
Long face	Often (30–79%)
Pointed chin	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Very often (80–99%)
Acid reflux	Often (30–79%)
Gap between large left and right abdominal muscles	Often (30–79%)
Umbilical hernia	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Farsightedness	Always
Cross-eyed	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Double-Jointed	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Accessory nipple	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	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 CHAMP1 and how often each is seen. Find out more at hpo.jax.org.

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