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Traits

Traits linked to CWC27

CWC27 spliceosome associated cyclophilin

The Human Phenotype Ontology links 60 traits to CWC27, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

TraitHvor ofte det ses
Big calvariaAltid
Abnormal facial shapeMeget ofte (80–99 %)
Downward slanting of the opening between the eyelidsMeget ofte (80–99 %)
Frontal bossingMeget ofte (80–99 %)
Little lower jawMeget ofte (80–99 %)
Underdeveloped tissue around nostrilMeget ofte (80–99 %)
Absent eyebrowNogle gange (5–29 %)
Absent eyelashesNogle gange (5–29 %)
Broad columellaNogle gange (5–29 %)
Deformity of the skullNogle gange (5–29 %)
Sparse eyebrowNogle gange (5–29 %)
Sparse eyelashesNogle gange (5–29 %)
Full lipsIkke registreret
High frontal hairlineIkke registreret

Abnormality of the nervous system

TraitHvor ofte det ses
Abnormality of the nervous systemMeget ofte (80–99 %)
Delayed ability to walkOfte (30–79 %)
Delayed speech and language developmentOfte (30–79 %)
Global developmental delayOfte (30–79 %)
Intellectual disabilityOfte (30–79 %)
Chiari malformationNogle gange (5–29 %)
Chiari type I malformationNogle gange (5–29 %)
Decrease in size of the outer layer of the brain due to loss of brain cellsNogle gange (5–29 %)
Delayed motor skillsNogle gange (5–29 %)
IQ between 34 and 49Nogle gange (5–29 %)

Abnormality of the eye

TraitHvor ofte det ses
Difficulties with night visionAltid
Retina degenerationMeget ofte (80–99 %)
Rod-cone dystrophyOfte (30–79 %)
Abnormal electroretinogramNogle gange (5–29 %)
Abnormality of pattern visual evoked potentialsNogle gange (5–29 %)
Partial loss of field of visionNogle gange (5–29 %)
Hypoautofluorescent retinal lesionIkke registreret
Loss of peripheral visionIkke registreret

Abnormality of limbs

TraitHvor ofte det ses
Short fingers or toesMeget ofte (80–99 %)
BunionNogle gange (5–29 %)
Dropped archesNogle gange (5–29 %)
Metaphyseal chondrodysplasiaNogle gange (5–29 %)
Shortened long bone of handNogle gange (5–29 %)
Metaphyseal dysplasiaIkke registreret
Short outermost finger boneIkke registreret

Abnormality of the integument

TraitHvor ofte det ses
BirthmarkNogle gange (5–29 %)
Hair lossNogle gange (5–29 %)
IchthyosisNogle gange (5–29 %)
Small nailNogle gange (5–29 %)
Sparse hairNogle gange (5–29 %)

Abnormality of the cardiovascular system

TraitHvor ofte det ses
Abnormal vena cava morphologyNogle gange (5–29 %)
Bilateral superior vena cavaNogle gange (5–29 %)
Heart murmurNogle gange (5–29 %)
Hole in heart wall separating two lower heart chambersNogle gange (5–29 %)

Abnormality of the genitourinary system

TraitHvor ofte det ses
Cystic kidney diseaseNogle gange (5–29 %)
Ectopic testisNogle gange (5–29 %)
Horseshoe kidneyNogle gange (5–29 %)
Undescended testesNogle gange (5–29 %)

Abnormality of the digestive system

TraitHvor ofte det ses
Feeding difficultiesOfte (30–79 %)
Inguinal herniaNogle gange (5–29 %)

Abnormality of the ear

TraitHvor ofte det ses
Large earsMeget ofte (80–99 %)
Low-set earsMeget ofte (80–99 %)

Growth abnormality

TraitHvor ofte det ses
Short statureMeget ofte (80–99 %)
Prenatal growth deficiencyNogle gange (5–29 %)

Abnormality of the endocrine system

TraitHvor ofte det ses
Abnormality of the endocrine systemNogle gange (5–29 %)

Abnormality of the musculoskeletal system

TraitHvor ofte det ses
Low muscle tone, in neonatal onsetNogle 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 CWC27 and how often each is seen. Find out more at hpo.jax.org.

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