Kenmerken

Kenmerken gekoppeld aan SPEN

spen family transcriptional repressor

De Human Phenotype Ontology koppelt 154 kenmerken aan SPEN, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

Abnormality of head or neck

Kenmerk	Hoe vaak het voorkomt
Horizontal eyebrow	Heel vaak (80–99%)
Long philtrum	Heel vaak (80–99%)
Midface retrusion	Heel vaak (80–99%)
Pointed 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%)
Delayed cranial suture closure	Vaak (30–79%)
Depressed nasal bridge	Vaak (30–79%)
Eye folds	Vaak (30–79%)
Flat nose	Vaak (30–79%)
Narrow mouth	Vaak (30–79%)
Abnormality of the neck	Soms (5–29%)
Broad opening between the eyelids	Soms (5–29%)
Bulbous nose	Soms (5–29%)
Coarse facial features	Soms (5–29%)
Dental crowding	Soms (5–29%)
Downward slanting of the opening between the eyelids	Soms (5–29%)
Drooling	Soms (5–29%)
Frontal bossing	Soms (5–29%)
Full lips	Soms (5–29%)
Fullness around the eyes	Soms (5–29%)
High frontal hairline	Soms (5–29%)
High palate	Soms (5–29%)
High, narrow palate	Soms (5–29%)
Highly arched eyebrow	Soms (5–29%)
Little lower jaw	Soms (5–29%)
Long eyebrows	Soms (5–29%)
Long eyelashes	Soms (5–29%)
Long face	Soms (5–29%)
Low frontal hairline	Soms (5–29%)
Monobrow	Soms (5–29%)
Narrow eyelid opening	Soms (5–29%)
Narrow forehead	Soms (5–29%)
Nasal tip, upturned	Soms (5–29%)
Oval face	Soms (5–29%)
Prominent nasal bridge	Soms (5–29%)
Prominent nasal tip	Soms (5–29%)
Receding chin	Soms (5–29%)
Short philtrum	Soms (5–29%)
Thick eyebrow	Soms (5–29%)
Thin red part of the upper lip	Soms (5–29%)
Upward slanting of the opening between the eyelids	Soms (5–29%)
Wide mouth	Soms (5–29%)

Abnormality of the nervous system

Kenmerk	Hoe vaak het voorkomt
Global developmental delay	Altijd
Intellectual disability	Altijd
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%)
Poor speech	Heel vaak (80–99%)
Ventriculomegaly	Heel vaak (80–99%)
Abnormality of balance	Vaak (30–79%)
Aggressive behavior	Vaak (30–79%)
Autism	Vaak (30–79%)
Autism spectrum disorder	Vaak (30–79%)
Behavioral abnormality	Vaak (30–79%)
Epilepsy	Vaak (30–79%)
Repetitive movements	Vaak (30–79%)
Self-injurious behavior	Vaak (30–79%)
Ataxia	Soms (5–29%)
Attention deficit	Soms (5–29%)
Cancer of early nerve cells	Soms (5–29%)
Cranial nerve paralysis	Soms (5–29%)
Gray matter heterotopia	Soms (5–29%)
Impulsivity	Soms (5–29%)
Increased appetite	Soms (5–29%)
Motor delay	Soms (5–29%)
Paralysis or weakness of one side of body	Soms (5–29%)
Poor eye contact	Soms (5–29%)
Tremor	Soms (5–29%)

Abnormality of the cardiovascular system

Kenmerk	Hoe vaak het voorkomt
Abnormal cardiovascular system morphology	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%)
Hole in heart wall separating two lower heart chambers	Soms (5–29%)
Patent ductus arteriosus	Soms (5–29%)
Spider veins	Soms (5–29%)
Strawberry mark	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
Deeply set eye	Heel vaak (80–99%)
Abnormality of vision	Vaak (30–79%)
Cross-eyed	Vaak (30–79%)
Severe farsightedness	Vaak (30–79%)
Absent pigmentation in the eye	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%)
Wide-set eyes	Soms (5–29%)

Abnormality of the musculoskeletal system

Kenmerk	Hoe vaak het voorkomt
Low muscle tone	Heel vaak (80–99%)
11 pairs of ribs	Soms (5–29%)
Abnormal formation of the hip	Soms (5–29%)
Cleft ribs	Soms (5–29%)
Hunched back	Soms (5–29%)
Joint stiffness	Soms (5–29%)
Muscle tissue disease	Soms (5–29%)
Narrow spinal canal	Soms (5–29%)
Rib fusion	Soms (5–29%)
Scoliosis	Soms (5–29%)

Abnormality of limbs

Kenmerk	Hoe vaak het voorkomt
Permanent flexion of the finger	Heel vaak (80–99%)
Short fingers or toes	Heel vaak (80–99%)
Short foot	Heel vaak (80–99%)
Curvature of little finger	Vaak (30–79%)
Dropped arches	Soms (5–29%)
Duplication of bones of the toes	Soms (5–29%)
High-arched foot	Soms (5–29%)
Left and right leg differ in length or width	Soms (5–29%)
Tapered finger	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%)
Poor swallowing	Vaak (30–79%)
Abnormality of the anus	Soms (5–29%)
Abnormality of the intestine	Soms (5–29%)
Abnormality of the liver	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	Vaak (30–79%)
Conductive deafness	Soms (5–29%)
Hearing impairment	Soms (5–29%)
Large earlobe	Soms (5–29%)
Low-set ears	Soms (5–29%)
Sensorineural hearing impairment	Soms (5–29%)
Small ears	Soms (5–29%)

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%)
Dry skin	Soms (5–29%)
Excessive hairiness	Soms (5–29%)
Excessive hairiness over body	Soms (5–29%)
Flat, discolored area of skin	Soms (5–29%)
Small nail	Soms (5–29%)
Stretch marks	Soms (5–29%)

Abnormality of the endocrine system

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

Growth abnormality

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

Abnormality of prenatal development or birth

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

Abnormality of the immune system

Kenmerk	Hoe vaak het voorkomt
Abnormality of the immune system	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 SPEN gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

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