Traits

Traits linked to SKI

SKI proto-oncogene

The Human Phenotype Ontology links 164 traits to SKI, by body system: features seen in people with one of the gene's rare conditions.

SKI

Abnormality of head or neck

Trait	How often it is seen
Corners of eye widely separated	Very often (80–99%)
Downward slanting of the opening between the eyelids	Very often (80–99%)
High palate	Very often (80–99%)
High, narrow palate	Very often (80–99%)
Horizontal eyebrow	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Long philtrum	Very often (80–99%)
Long, narrow head	Very often (80–99%)
Midface retrusion	Very often (80–99%)
Pointed chin	Very often (80–99%)
Receding chin	Very often (80–99%)
Wide nasal bridge	Very often (80–99%)
Abnormality of the eyebrow	Often (30–79%)
Abnormally small head	Often (30–79%)
Broad head shape	Often (30–79%)
Decreased depth of eye sockets	Often (30–79%)
Decreased size of maxilla	Often (30–79%)
Deformity of the skull	Often (30–79%)
Delayed cranial suture closure	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Eye folds	Often (30–79%)
Flat nose	Often (30–79%)
Frontal bossing	Often (30–79%)
High forehead	Often (30–79%)
Narrow mouth	Often (30–79%)
Prominent forehead	Often (30–79%)
Abnormality of the neck	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Bad bite	Not recorded
High, prominent forehead	Not recorded
Narrow palate	Not recorded
Wider-than-typical soft spot of skull	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Very often (80–99%)
Abnormal speech pattern	Very often (80–99%)
Absent speech development	Very often (80–99%)
Agenesis of corpus callosum	Very often (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Very often (80–99%)
Delayed speech and language development	Very often (80–99%)
EEG abnormality	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Poor speech	Very often (80–99%)
Ventriculomegaly	Very often (80–99%)
Autism	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Communicating hydrocephalus	Often (30–79%)
Epilepsy	Often (30–79%)
Repetitive movements	Often (30–79%)
Self-injurious behavior	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Cancer of early nerve cells	Sometimes (5–29%)
Chiari malformation	Sometimes (5–29%)
Cranial nerve paralysis	Sometimes (5–29%)
Increased appetite	Sometimes (5–29%)
Obstructive sleep apnea	Sometimes (5–29%)
Paralysis or weakness of one side of body	Sometimes (5–29%)
Chiari type I malformation	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Double-Jointed	Often (30–79%)
Funnel chest	Often (30–79%)
Permanent flexion of the finger or toe	Often (30–79%)
Pigeon chest	Often (30–79%)
Scoliosis	Often (30–79%)
11 pairs of ribs	Sometimes (5–29%)
Abdominal wall muscle weakness	Sometimes (5–29%)
Abnormal formation of the hip	Sometimes (5–29%)
Abnormal vertebral body morphology	Sometimes (5–29%)
Cleft ribs	Sometimes (5–29%)
Extra ribs	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Joint stiffness	Sometimes (5–29%)
Missing ribs	Sometimes (5–29%)
Muscle tissue disease	Sometimes (5–29%)
Narrow chest	Sometimes (5–29%)
Narrow spinal canal	Sometimes (5–29%)
Osteopenia	Sometimes (5–29%)
Rib fusion	Sometimes (5–29%)
C1-C2 vertebral abnormality	Not recorded
Generalized decreased muscle tone	Not recorded
Hook-shaped collarbone	Not recorded
Thin ribs	Not recorded

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Very often (80–99%)
Long slender fingers	Very often (80–99%)
Permanent flexion of the finger	Very often (80–99%)
Short fingers or toes	Very often (80–99%)
Short foot	Very often (80–99%)
Club feet	Often (30–79%)
Curvature of little finger	Often (30–79%)
Abnormality of the wide portion of a long bone	Sometimes (5–29%)
Bowing of the long bones	Sometimes (5–29%)
Broad wide portion of long bone	Sometimes (5–29%)
Dislocated radial head	Sometimes (5–29%)
Duplication of bones of the toes	Sometimes (5–29%)
Elbow dislocation	Sometimes (5–29%)
Joint contracture of the hand	Sometimes (5–29%)
Knock knees	Sometimes (5–29%)
Left and right leg differ in length or width	Sometimes (5–29%)
Back knee	Not recorded
Front half of foot turns inward	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal aortic valve morphology	Often (30–79%)
Abnormal cardiovascular system morphology	Often (30–79%)
Mitral regurgitation	Often (30–79%)
Mitral valve prolapse	Often (30–79%)
Abnormal cardiac septum morphology	Sometimes (5–29%)
Abnormal heart valve morphology	Sometimes (5–29%)
Abnormality of the spleen	Sometimes (5–29%)
Aortic arch aneurysm	Sometimes (5–29%)
Bulge in wall of large artery that carries blood away from heart	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Spider veins	Sometimes (5–29%)
Stretched and thinned heart muscle	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Very often (80–99%)
Deeply set eye	Very often (80–99%)
Wide-set eyes	Very often (80–99%)
Abnormality of vision	Often (30–79%)
Cross-eyed	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Severe farsightedness	Often (30–79%)
Absent pigmentation in the eye	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Optic atrophy	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Often (30–79%)
Constipation	Often (30–79%)
Feeding difficulties in infancy	Often (30–79%)
Inguinal hernia	Often (30–79%)
Poor swallowing	Often (30–79%)
Umbilical hernia	Often (30–79%)
Abnormality of the anus	Sometimes (5–29%)
Abnormality of the intestine	Sometimes (5–29%)
Abnormality of the liver	Sometimes (5–29%)
Absent/small abdominal wall muscles	Sometimes (5–29%)
Annular pancreas	Sometimes (5–29%)
Pyloric stenosis	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Very often (80–99%)
Low-set ears	Very often (80–99%)
Conductive deafness	Sometimes (5–29%)
Prominent ear	Sometimes (5–29%)
Sensorineural hearing impairment	Sometimes (5–29%)
Small ears	Sometimes (5–29%)
Abnormally shaped ears	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal female external genitalia	Sometimes (5–29%)
Abnormality of the kidney	Sometimes (5–29%)
Cystic kidney disease	Sometimes (5–29%)
Hydronephrosis	Sometimes (5–29%)
Hypospadias	Sometimes (5–29%)
Underdeveloped penis	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Abnormal blistering of the skin	Sometimes (5–29%)
Excessive hairiness over body	Sometimes (5–29%)
Flat, discolored area of skin	Sometimes (5–29%)
Hyperelastic skin	Sometimes (5–29%)
Minimal fat below the skin	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Obesity	Sometimes (5–29%)
Short stature	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Sometimes (5–29%)
Underactive thyroid	Sometimes (5–29%)

Abnormality of the immune system

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

Abnormality of the respiratory system

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

Laboratory abnormality

Trait	How often it is seen
Fatty infiltration of liver	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 SKI and how often each is seen. Find out more at hpo.jax.org.

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