Kenmerken

Kenmerken gekoppeld aan SKI

SKI proto-oncogene

De Human Phenotype Ontology koppelt 164 kenmerken aan SKI, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

SKI

Abnormality of head or neck

Kenmerk	Hoe vaak het voorkomt
Corners of eye widely separated	Heel vaak (80–99%)
Downward slanting of the opening between the eyelids	Heel vaak (80–99%)
High palate	Heel vaak (80–99%)
High, narrow palate	Heel vaak (80–99%)
Horizontal eyebrow	Heel vaak (80–99%)
Little lower jaw	Heel vaak (80–99%)
Long philtrum	Heel vaak (80–99%)
Long, narrow head	Heel vaak (80–99%)
Midface retrusion	Heel vaak (80–99%)
Pointed chin	Heel vaak (80–99%)
Receding chin	Heel vaak (80–99%)
Wide nasal bridge	Heel vaak (80–99%)
Abnormality of the eyebrow	Vaak (30–79%)
Abnormally small head	Vaak (30–79%)
Broad head shape	Vaak (30–79%)
Decreased depth of eye sockets	Vaak (30–79%)
Decreased size of maxilla	Vaak (30–79%)
Deformity of the skull	Vaak (30–79%)
Delayed cranial suture closure	Vaak (30–79%)
Depressed nasal bridge	Vaak (30–79%)
Eye folds	Vaak (30–79%)
Flat nose	Vaak (30–79%)
Frontal bossing	Vaak (30–79%)
High forehead	Vaak (30–79%)
Narrow mouth	Vaak (30–79%)
Prominent forehead	Vaak (30–79%)
Abnormality of the neck	Soms (5–29%)
Nasal tip, upturned	Soms (5–29%)
Bad bite	Niet vastgelegd
High, prominent forehead	Niet vastgelegd
Narrow palate	Niet vastgelegd
Wider-than-typical soft spot of skull	Niet vastgelegd

Abnormality of the nervous system

Kenmerk	Hoe vaak het voorkomt
Abnormal gait	Heel vaak (80–99%)
Abnormal speech pattern	Heel vaak (80–99%)
Absent speech development	Heel vaak (80–99%)
Agenesis of corpus callosum	Heel vaak (80–99%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Heel vaak (80–99%)
Delayed speech and language development	Heel vaak (80–99%)
EEG abnormality	Heel vaak (80–99%)
Global developmental delay	Heel vaak (80–99%)
Intellectual disability	Heel vaak (80–99%)
Poor speech	Heel vaak (80–99%)
Ventriculomegaly	Heel vaak (80–99%)
Autism	Vaak (30–79%)
Behavioral abnormality	Vaak (30–79%)
Communicating hydrocephalus	Vaak (30–79%)
Epilepsy	Vaak (30–79%)
Repetitive movements	Vaak (30–79%)
Self-injurious behavior	Vaak (30–79%)
Too much cerebrospinal fluid in the brain	Vaak (30–79%)
Cancer of early nerve cells	Soms (5–29%)
Chiari malformation	Soms (5–29%)
Cranial nerve paralysis	Soms (5–29%)
Increased appetite	Soms (5–29%)
Obstructive sleep apnea	Soms (5–29%)
Paralysis or weakness of one side of body	Soms (5–29%)
Chiari type I malformation	Niet vastgelegd

Abnormality of the musculoskeletal system

Kenmerk	Hoe vaak het voorkomt
Low muscle tone	Heel vaak (80–99%)
Double-Jointed	Vaak (30–79%)
Funnel chest	Vaak (30–79%)
Permanent flexion of the finger or toe	Vaak (30–79%)
Pigeon chest	Vaak (30–79%)
Scoliosis	Vaak (30–79%)
11 pairs of ribs	Soms (5–29%)
Abdominal wall muscle weakness	Soms (5–29%)
Abnormal formation of the hip	Soms (5–29%)
Abnormal vertebral body morphology	Soms (5–29%)
Cleft ribs	Soms (5–29%)
Extra ribs	Soms (5–29%)
Hunched back	Soms (5–29%)
Joint stiffness	Soms (5–29%)
Missing ribs	Soms (5–29%)
Muscle tissue disease	Soms (5–29%)
Narrow chest	Soms (5–29%)
Narrow spinal canal	Soms (5–29%)
Osteopenia	Soms (5–29%)
Rib fusion	Soms (5–29%)
C1-C2 vertebral abnormality	Niet vastgelegd
Generalized decreased muscle tone	Niet vastgelegd
Hook-shaped collarbone	Niet vastgelegd
Thin ribs	Niet vastgelegd

Abnormality of limbs

Kenmerk	Hoe vaak het voorkomt
Dropped arches	Heel vaak (80–99%)
Long slender fingers	Heel vaak (80–99%)
Permanent flexion of the finger	Heel vaak (80–99%)
Short fingers or toes	Heel vaak (80–99%)
Short foot	Heel vaak (80–99%)
Club feet	Vaak (30–79%)
Curvature of little finger	Vaak (30–79%)
Abnormality of the wide portion of a long bone	Soms (5–29%)
Bowing of the long bones	Soms (5–29%)
Broad wide portion of long bone	Soms (5–29%)
Dislocated radial head	Soms (5–29%)
Duplication of bones of the toes	Soms (5–29%)
Elbow dislocation	Soms (5–29%)
Joint contracture of the hand	Soms (5–29%)
Knock knees	Soms (5–29%)
Left and right leg differ in length or width	Soms (5–29%)
Back knee	Niet vastgelegd
Front half of foot turns inward	Niet vastgelegd

Abnormality of the cardiovascular system

Kenmerk	Hoe vaak het voorkomt
Abnormal aortic valve morphology	Vaak (30–79%)
Abnormal cardiovascular system morphology	Vaak (30–79%)
Mitral regurgitation	Vaak (30–79%)
Mitral valve prolapse	Vaak (30–79%)
Abnormal cardiac septum morphology	Soms (5–29%)
Abnormal heart valve morphology	Soms (5–29%)
Abnormality of the spleen	Soms (5–29%)
Aortic arch aneurysm	Soms (5–29%)
Bulge in wall of large artery that carries blood away from heart	Soms (5–29%)
Patent ductus arteriosus	Soms (5–29%)
Spider veins	Soms (5–29%)
Stretched and thinned heart muscle	Soms (5–29%)
Tetralogy of Fallot	Soms (5–29%)

Abnormality of the eye

Kenmerk	Hoe vaak het voorkomt
Bulging eye	Heel vaak (80–99%)
Deeply set eye	Heel vaak (80–99%)
Wide-set eyes	Heel vaak (80–99%)
Abnormality of vision	Vaak (30–79%)
Cross-eyed	Vaak (30–79%)
Drooping upper eyelid	Vaak (30–79%)
Severe farsightedness	Vaak (30–79%)
Absent pigmentation in the eye	Soms (5–29%)
Close sighted	Soms (5–29%)
Clouding of the lens of the eye	Soms (5–29%)
Involuntary, rapid, rhythmic eye movements	Soms (5–29%)
Optic atrophy	Soms (5–29%)
Visual impairment	Soms (5–29%)

Abnormality of the digestive system

Kenmerk	Hoe vaak het voorkomt
Acid reflux	Vaak (30–79%)
Constipation	Vaak (30–79%)
Feeding difficulties in infancy	Vaak (30–79%)
Inguinal hernia	Vaak (30–79%)
Poor swallowing	Vaak (30–79%)
Umbilical hernia	Vaak (30–79%)
Abnormality of the anus	Soms (5–29%)
Abnormality of the intestine	Soms (5–29%)
Abnormality of the liver	Soms (5–29%)
Absent/small abdominal wall muscles	Soms (5–29%)
Annular pancreas	Soms (5–29%)
Pyloric stenosis	Soms (5–29%)

Abnormality of the ear

Kenmerk	Hoe vaak het voorkomt
Ears rotated toward back of head	Heel vaak (80–99%)
Low-set ears	Heel vaak (80–99%)
Conductive deafness	Soms (5–29%)
Prominent ear	Soms (5–29%)
Sensorineural hearing impairment	Soms (5–29%)
Small ears	Soms (5–29%)
Abnormally shaped ears	Niet vastgelegd

Abnormality of the genitourinary system

Kenmerk	Hoe vaak het voorkomt
Abnormal female external genitalia	Soms (5–29%)
Abnormality of the kidney	Soms (5–29%)
Cystic kidney disease	Soms (5–29%)
Hydronephrosis	Soms (5–29%)
Hypospadias	Soms (5–29%)
Underdeveloped penis	Soms (5–29%)
Undescended testes	Soms (5–29%)

Abnormality of the integument

Kenmerk	Hoe vaak het voorkomt
Abnormal blistering of the skin	Soms (5–29%)
Excessive hairiness over body	Soms (5–29%)
Flat, discolored area of skin	Soms (5–29%)
Hyperelastic skin	Soms (5–29%)
Minimal fat below the skin	Niet vastgelegd

Growth abnormality

Kenmerk	Hoe vaak het voorkomt
Faltering weight	Heel vaak (80–99%)
Obesity	Soms (5–29%)
Short stature	Soms (5–29%)

Abnormality of the endocrine system

Kenmerk	Hoe vaak het voorkomt
Decreased activity of gonads	Soms (5–29%)
Underactive thyroid	Soms (5–29%)

Abnormality of the immune system

Kenmerk	Hoe vaak het voorkomt
Abnormality of the immune system	Soms (5–29%)

Abnormality of the respiratory system

Kenmerk	Hoe vaak het voorkomt
Apnea	Soms (5–29%)

Laboratory abnormality

Kenmerk	Hoe vaak het voorkomt
Fatty infiltration of liver	Soms (5–29%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

De Human Phenotype Ontology, versie 2026-09-01: de aan SKI gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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