Traits

Traits linked to KRIT1

KRIT1 ankyrin repeat containing

The Human Phenotype Ontology links 31 traits to KRIT1, 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
Epilepsy	Very often (80–99%)
Headache	Very often (80–99%)
Focal T2 hyperintense brainstem lesion	Often (30–79%)
Focal T2 hypointense brainstem lesion	Often (30–79%)
Nerve tumor	Often (30–79%)
Numbness	Often (30–79%)
Pins and needles feeling	Often (30–79%)
Rise in pressure inside skull	Often (30–79%)
Cognitive impairment	Sometimes (5–29%)
Spinal cord lesion	Sometimes (5–29%)
Astrocytoma	Rarely (1–4%)
Noncancerous growth of membranes covering brain	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Cerebral cavernous malformation	Always
Collection of dilated blood vessels that forms mass	Often (30–79%)
Strawberry mark	Often (30–79%)
Choroidal hemangioma	Sometimes (5–29%)
Retinal cavernous hemangioma	Sometimes (5–29%)
Vascular skin abnormality	Sometimes (5–29%)
Venous malformation	Sometimes (5–29%)
Developmental retinal vascular malformation	Not recorded
Hepatic vascular malformations	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Muscle weakness	Often (30–79%)
Scoliosis	Often (30–79%)
Abnormal deposits of calcium in the brain	Not recorded
Muscular abnormality	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding in brain	Very often (80–99%)
Bleeding within the skull	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Episodic vomiting	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Vestibular schwannoma	Rarely (1–4%)

Abnormality of the endocrine system

Trait	How often it is seen
Adrenal calcification	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Abnormality of the skin	Not recorded

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 KRIT1 and how often each is seen. Find out more at hpo.jax.org.

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