Traits

Traits linked to CRLF1

cytokine receptor like factor 1

The Human Phenotype Ontology links 56 traits to CRLF1, by body system: features seen in people with one of the gene's rare conditions.

CRLF1

Abnormality of head or neck

Trait	How often it is seen
Full cheeks	Very often (80–99%)
Large face	Very often (80–99%)
Long philtrum	Very often (80–99%)
Nasal tip, upturned	Very often (80–99%)
Wide nose	Very often (80–99%)
High palate	Often (30–79%)
Little lower jaw	Sometimes (5–29%)
Narrow mouth	Sometimes (5–29%)
Bell's palsy	Not recorded
Decrease in jaw mobility	Not recorded
Dental cavities	Not recorded
Depressed nasal bridge	Not recorded
Receding chin	Not recorded
Short neck	Not recorded

Abnormality of limbs

Trait	How often it is seen
Permanent flexion of the finger	Very often (80–99%)
Club feet	Not recorded
Dropped arches	Not recorded
Elbow flexion contracture	Not recorded
Inward turned thumb	Not recorded
Limited elbow extension	Not recorded
Radial deviation of finger	Not recorded
Short palm	Not recorded
Tapered finger	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Flexed joint that cannot be straightened	Very often (80–99%)
Hunched back	Very often (80–99%)
Scoliosis	Very often (80–99%)
Spasticity and rigidity of muscles	Very often (80–99%)
Limitation of joint mobility	Often (30–79%)
Kyphoscoliosis	Not recorded
Opisthotonus	Not recorded
Permanent flexion of the finger or toe	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Very often (80–99%)
Poor swallowing	Very often (80–99%)
Acid reflux	Often (30–79%)
Malnutrition	Sometimes (5–29%)
Feeding difficulties in infancy	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory function loss	Very often (80–99%)
Cough	Often (30–79%)
Wheezing	Sometimes (5–29%)
Breathing difficulty	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Cognitive impairment	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Malignant hyperthermia	Very often (80–99%)
Decreased circulating prealbumin concentration	Sometimes (5–29%)
Episodic fever	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Bronchitis	Often (30–79%)
Recurrent aspiration pneumonia	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Decreased ability to sweat	Very often (80–99%)
Excessive sweating	Very often (80–99%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Sudden cardiac death	Very often (80–99%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Not recorded

Abnormality of the eye

Trait	How often it is seen
Corneal inflammation	Not recorded

Abnormality of the voice

Trait	How often it is seen
Nasal speech	Not recorded

Constitutional symptom

Trait	How often it is seen
Chest pain	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Weight loss	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 CRLF1 and how often each is seen. Find out more at hpo.jax.org.

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