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

Trait	How often it is seen
Big calvaria	Always
Abnormal facial shape	Very often (80–99%)
Downward slanting of the opening between the eyelids	Very often (80–99%)
Frontal bossing	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Underdeveloped tissue around nostril	Very often (80–99%)
Absent eyebrow	Sometimes (5–29%)
Absent eyelashes	Sometimes (5–29%)
Broad columella	Sometimes (5–29%)
Deformity of the skull	Sometimes (5–29%)
Sparse eyebrow	Sometimes (5–29%)
Sparse eyelashes	Sometimes (5–29%)
Full lips	Not recorded
High frontal hairline	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormality of the nervous system	Very often (80–99%)
Delayed ability to walk	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Global developmental delay	Often (30–79%)
Intellectual disability	Often (30–79%)
Chiari malformation	Sometimes (5–29%)
Chiari type I malformation	Sometimes (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Sometimes (5–29%)
Delayed motor skills	Sometimes (5–29%)
IQ between 34 and 49	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Difficulties with night vision	Always
Retina degeneration	Very often (80–99%)
Rod-cone dystrophy	Often (30–79%)
Abnormal electroretinogram	Sometimes (5–29%)
Abnormality of pattern visual evoked potentials	Sometimes (5–29%)
Partial loss of field of vision	Sometimes (5–29%)
Hypoautofluorescent retinal lesion	Not recorded
Loss of peripheral vision	Not recorded

Abnormality of limbs

Trait	How often it is seen
Short fingers or toes	Very often (80–99%)
Bunion	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Metaphyseal chondrodysplasia	Sometimes (5–29%)
Shortened long bone of hand	Sometimes (5–29%)
Metaphyseal dysplasia	Not recorded
Short outermost finger bone	Not recorded

Abnormality of the integument

Trait	How often it is seen
Birthmark	Sometimes (5–29%)
Hair loss	Sometimes (5–29%)
Ichthyosis	Sometimes (5–29%)
Small nail	Sometimes (5–29%)
Sparse hair	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal vena cava morphology	Sometimes (5–29%)
Bilateral superior vena cava	Sometimes (5–29%)
Heart murmur	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Cystic kidney disease	Sometimes (5–29%)
Ectopic testis	Sometimes (5–29%)
Horseshoe kidney	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Often (30–79%)
Inguinal hernia	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Large ears	Very often (80–99%)
Low-set ears	Very often (80–99%)

Growth abnormality

Trait	How often it is seen
Short stature	Very often (80–99%)
Prenatal growth deficiency	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Abnormality of the endocrine system	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone, in neonatal onset	Sometimes (5–29%)

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 CWC27 and how often each is seen. Find out more at hpo.jax.org.

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