Traits

Traits linked to HELLS

helicase, lymphoid specific

The Human Phenotype Ontology links 26 traits to HELLS, 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
Little lower jaw	Very often (80–99%)
Big calvaria	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Abnormally large tongue	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)
Flat face	Sometimes (5–29%)
Protruding tongue	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Decreased immune function	Very often (80–99%)
Recurrent respiratory infections	Very often (80–99%)
Cellular immunodeficiency	Often (30–79%)
Recurrent infections	Often (30–79%)

Abnormality of the nervous system

Trait	How often it is seen
Communicating hydrocephalus	Often (30–79%)
Global developmental delay	Often (30–79%)
Intellectual disability	Often (30–79%)
Motor delay	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Abnormality of chromosome stability	Very often (80–99%)
Decreased circulating antibody level	Very often (80–99%)
Agammaglobulinemia	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormality of neutrophils	Often (30–79%)
Decreased blood lymphocyte number	Often (30–79%)
Low number of red blood cells or hemoglobin	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Malabsorption	Often (30–79%)
Umbilical hernia	Sometimes (5–29%)

Abnormality of the ear

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

Abnormality of the eye

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

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)

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

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