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Traits

Traits linked to CAPN15

calpain 15

The Human Phenotype Ontology links 19 traits to CAPN15, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the eye

TraitHvor ofte det ses
Notched pupilMeget ofte (80–99 %)
Abnormally small eyeball on both sidesNogle gange (5–29 %)
Abnormally small eyeball on one sideNogle gange (5–29 %)
Dropping of one upper eyelidNogle gange (5–29 %)

Abnormality of head or neck

TraitHvor ofte det ses
Abnormally small headNogle gange (5–29 %)
Low hanging columellaNogle gange (5–29 %)

Abnormality of the genitourinary system

TraitHvor ofte det ses
Horseshoe kidneyNogle gange (5–29 %)
Vaginal fistulaNogle gange (5–29 %)

Abnormality of the integument

TraitHvor ofte det ses
Excessive hairinessNogle gange (5–29 %)
Spinal dimpleNogle gange (5–29 %)

Abnormality of the nervous system

TraitHvor ofte det ses
Autism spectrum disorderOfte (30–79 %)
Global developmental delayOfte (30–79 %)

Abnormality of the cardiovascular system

TraitHvor ofte det ses
Aortic valve has two leaflets rather than threeNogle gange (5–29 %)

Abnormality of the digestive system

TraitHvor ofte det ses
Absent anusOfte (30–79 %)

Abnormality of the ear

TraitHvor ofte det ses
Simple earOfte (30–79 %)

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
Missing part of vertebraeNogle gange (5–29 %)

Abnormality of the respiratory system

TraitHvor ofte det ses
Laryngeal cleftNogle gange (5–29 %)

Abnormality of the voice

TraitHvor ofte det ses
Inability to produce voice soundsNogle gange (5–29 %)

Growth abnormality

TraitHvor ofte det ses
Short statureNogle gange (5–29 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to CAPN15 and how often each is seen. Find out more at hpo.jax.org.

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