Egenskaper

Egenskaper kopplade till SPEN

spen family transcriptional repressor

Human Phenotype Ontology kopplar 154 egenskaper till SPEN, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.

SPEN

Abnormality of head or neck

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

Abnormality of the nervous system

Egenskap	Hur ofta den förekommer
Global developmental delay	Alltid
Intellectual disability	Alltid
Abnormal gait	Mycket ofta (80–99 %)
Abnormal speech pattern	Mycket ofta (80–99 %)
Absent speech development	Mycket ofta (80–99 %)
Agenesis of corpus callosum	Mycket ofta (80–99 %)
Decrease in size of the outer layer of the brain due to loss of brain cells	Mycket ofta (80–99 %)
Delayed speech and language development	Mycket ofta (80–99 %)
EEG abnormality	Mycket ofta (80–99 %)
Poor speech	Mycket ofta (80–99 %)
Ventriculomegaly	Mycket ofta (80–99 %)
Abnormality of balance	Ofta (30–79 %)
Aggressive behavior	Ofta (30–79 %)
Autism	Ofta (30–79 %)
Autism spectrum disorder	Ofta (30–79 %)
Behavioral abnormality	Ofta (30–79 %)
Epilepsy	Ofta (30–79 %)
Repetitive movements	Ofta (30–79 %)
Self-injurious behavior	Ofta (30–79 %)
Ataxia	Ibland (5–29 %)
Attention deficit	Ibland (5–29 %)
Cancer of early nerve cells	Ibland (5–29 %)
Cranial nerve paralysis	Ibland (5–29 %)
Gray matter heterotopia	Ibland (5–29 %)
Impulsivity	Ibland (5–29 %)
Increased appetite	Ibland (5–29 %)
Motor delay	Ibland (5–29 %)
Paralysis or weakness of one side of body	Ibland (5–29 %)
Poor eye contact	Ibland (5–29 %)
Tremor	Ibland (5–29 %)

Abnormality of the cardiovascular system

Egenskap	Hur ofta den förekommer
Abnormal cardiovascular system morphology	Ofta (30–79 %)
Abnormal cardiac septum morphology	Ibland (5–29 %)
Abnormal heart valve morphology	Ibland (5–29 %)
Abnormality of the spleen	Ibland (5–29 %)
Aortic arch aneurysm	Ibland (5–29 %)
Hole in heart wall separating two lower heart chambers	Ibland (5–29 %)
Patent ductus arteriosus	Ibland (5–29 %)
Spider veins	Ibland (5–29 %)
Strawberry mark	Ibland (5–29 %)
Stretched and thinned heart muscle	Ibland (5–29 %)
Tetralogy of Fallot	Ibland (5–29 %)

Abnormality of the eye

Egenskap	Hur ofta den förekommer
Deeply set eye	Mycket ofta (80–99 %)
Abnormality of vision	Ofta (30–79 %)
Cross-eyed	Ofta (30–79 %)
Severe farsightedness	Ofta (30–79 %)
Absent pigmentation in the eye	Ibland (5–29 %)
Clouding of the lens of the eye	Ibland (5–29 %)
Involuntary, rapid, rhythmic eye movements	Ibland (5–29 %)
Optic atrophy	Ibland (5–29 %)
Visual impairment	Ibland (5–29 %)
Wide-set eyes	Ibland (5–29 %)

Abnormality of the musculoskeletal system

Egenskap	Hur ofta den förekommer
Low muscle tone	Mycket ofta (80–99 %)
11 pairs of ribs	Ibland (5–29 %)
Abnormal formation of the hip	Ibland (5–29 %)
Cleft ribs	Ibland (5–29 %)
Hunched back	Ibland (5–29 %)
Joint stiffness	Ibland (5–29 %)
Muscle tissue disease	Ibland (5–29 %)
Narrow spinal canal	Ibland (5–29 %)
Rib fusion	Ibland (5–29 %)
Scoliosis	Ibland (5–29 %)

Abnormality of limbs

Egenskap	Hur ofta den förekommer
Permanent flexion of the finger	Mycket ofta (80–99 %)
Short fingers or toes	Mycket ofta (80–99 %)
Short foot	Mycket ofta (80–99 %)
Curvature of little finger	Ofta (30–79 %)
Dropped arches	Ibland (5–29 %)
Duplication of bones of the toes	Ibland (5–29 %)
High-arched foot	Ibland (5–29 %)
Left and right leg differ in length or width	Ibland (5–29 %)
Tapered finger	Ibland (5–29 %)

Abnormality of the digestive system

Egenskap	Hur ofta den förekommer
Acid reflux	Ofta (30–79 %)
Constipation	Ofta (30–79 %)
Feeding difficulties in infancy	Ofta (30–79 %)
Poor swallowing	Ofta (30–79 %)
Abnormality of the anus	Ibland (5–29 %)
Abnormality of the intestine	Ibland (5–29 %)
Abnormality of the liver	Ibland (5–29 %)
Annular pancreas	Ibland (5–29 %)
Pyloric stenosis	Ibland (5–29 %)

Abnormality of the ear

Egenskap	Hur ofta den förekommer
Ears rotated toward back of head	Ofta (30–79 %)
Conductive deafness	Ibland (5–29 %)
Hearing impairment	Ibland (5–29 %)
Large earlobe	Ibland (5–29 %)
Low-set ears	Ibland (5–29 %)
Sensorineural hearing impairment	Ibland (5–29 %)
Small ears	Ibland (5–29 %)

Abnormality of the genitourinary system

Egenskap	Hur ofta den förekommer
Abnormal female external genitalia	Ibland (5–29 %)
Abnormality of the kidney	Ibland (5–29 %)
Cystic kidney disease	Ibland (5–29 %)
Hydronephrosis	Ibland (5–29 %)
Hypospadias	Ibland (5–29 %)
Underdeveloped penis	Ibland (5–29 %)
Undescended testes	Ibland (5–29 %)

Abnormality of the integument

Egenskap	Hur ofta den förekommer
Abnormal blistering of the skin	Ibland (5–29 %)
Dry skin	Ibland (5–29 %)
Excessive hairiness	Ibland (5–29 %)
Excessive hairiness over body	Ibland (5–29 %)
Flat, discolored area of skin	Ibland (5–29 %)
Small nail	Ibland (5–29 %)
Stretch marks	Ibland (5–29 %)

Abnormality of the endocrine system

Egenskap	Hur ofta den förekommer
Decreased activity of gonads	Ibland (5–29 %)
Early onset of puberty	Ibland (5–29 %)
Underactive thyroid	Ibland (5–29 %)

Growth abnormality

Egenskap	Hur ofta den förekommer
Faltering weight	Mycket ofta (80–99 %)
Obesity	Ibland (5–29 %)
Short stature	Ibland (5–29 %)

Abnormality of prenatal development or birth

Egenskap	Hur ofta den förekommer
Fetal distress	Ibland (5–29 %)

Abnormality of the immune system

Egenskap	Hur ofta den förekommer
Abnormality of the immune system	Ibland (5–29 %)

Laboratory abnormality

Egenskap	Hur ofta den förekommer
Fatty infiltration of liver	Ibland (5–29 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till SPEN och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.

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