Traits

Traits linked to SPEN

spen family transcriptional repressor

The Human Phenotype Ontology links 154 traits to SPEN, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the cardiovascular system

Trait	Kui sageli seda täheldatakse
Abnormal cardiovascular system morphology	Sageli (30–79%)
Abnormal cardiac septum morphology	Mõnikord (5–29%)
Abnormal heart valve morphology	Mõnikord (5–29%)
Abnormality of the spleen	Mõnikord (5–29%)
Aortic arch aneurysm	Mõnikord (5–29%)
Hole in heart wall separating two lower heart chambers	Mõnikord (5–29%)
Patent ductus arteriosus	Mõnikord (5–29%)
Spider veins	Mõnikord (5–29%)
Strawberry mark	Mõnikord (5–29%)
Stretched and thinned heart muscle	Mõnikord (5–29%)
Tetralogy of Fallot	Mõnikord (5–29%)

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Deeply set eye	Väga sageli (80–99%)
Abnormality of vision	Sageli (30–79%)
Cross-eyed	Sageli (30–79%)
Severe farsightedness	Sageli (30–79%)
Absent pigmentation in the eye	Mõnikord (5–29%)
Clouding of the lens of the eye	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)
Optic atrophy	Mõnikord (5–29%)
Visual impairment	Mõnikord (5–29%)
Wide-set eyes	Mõnikord (5–29%)

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Low muscle tone	Väga sageli (80–99%)
11 pairs of ribs	Mõnikord (5–29%)
Abnormal formation of the hip	Mõnikord (5–29%)
Cleft ribs	Mõnikord (5–29%)
Hunched back	Mõnikord (5–29%)
Joint stiffness	Mõnikord (5–29%)
Muscle tissue disease	Mõnikord (5–29%)
Narrow spinal canal	Mõnikord (5–29%)
Rib fusion	Mõnikord (5–29%)
Scoliosis	Mõnikord (5–29%)

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Permanent flexion of the finger	Väga sageli (80–99%)
Short fingers or toes	Väga sageli (80–99%)
Short foot	Väga sageli (80–99%)
Curvature of little finger	Sageli (30–79%)
Dropped arches	Mõnikord (5–29%)
Duplication of bones of the toes	Mõnikord (5–29%)
High-arched foot	Mõnikord (5–29%)
Left and right leg differ in length or width	Mõnikord (5–29%)
Tapered finger	Mõnikord (5–29%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Acid reflux	Sageli (30–79%)
Constipation	Sageli (30–79%)
Feeding difficulties in infancy	Sageli (30–79%)
Poor swallowing	Sageli (30–79%)
Abnormality of the anus	Mõnikord (5–29%)
Abnormality of the intestine	Mõnikord (5–29%)
Abnormality of the liver	Mõnikord (5–29%)
Annular pancreas	Mõnikord (5–29%)
Pyloric stenosis	Mõnikord (5–29%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Ears rotated toward back of head	Sageli (30–79%)
Conductive deafness	Mõnikord (5–29%)
Hearing impairment	Mõnikord (5–29%)
Large earlobe	Mõnikord (5–29%)
Low-set ears	Mõnikord (5–29%)
Sensorineural hearing impairment	Mõnikord (5–29%)
Small ears	Mõnikord (5–29%)

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Abnormal female external genitalia	Mõnikord (5–29%)
Abnormality of the kidney	Mõnikord (5–29%)
Cystic kidney disease	Mõnikord (5–29%)
Hydronephrosis	Mõnikord (5–29%)
Hypospadias	Mõnikord (5–29%)
Underdeveloped penis	Mõnikord (5–29%)
Undescended testes	Mõnikord (5–29%)

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Abnormal blistering of the skin	Mõnikord (5–29%)
Dry skin	Mõnikord (5–29%)
Excessive hairiness	Mõnikord (5–29%)
Excessive hairiness over body	Mõnikord (5–29%)
Flat, discolored area of skin	Mõnikord (5–29%)
Small nail	Mõnikord (5–29%)
Stretch marks	Mõnikord (5–29%)

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Decreased activity of gonads	Mõnikord (5–29%)
Early onset of puberty	Mõnikord (5–29%)
Underactive thyroid	Mõnikord (5–29%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Faltering weight	Väga sageli (80–99%)
Obesity	Mõnikord (5–29%)
Short stature	Mõnikord (5–29%)

Abnormality of prenatal development or birth

Trait	Kui sageli seda täheldatakse
Fetal distress	Mõnikord (5–29%)

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Abnormality of the immune system	Mõnikord (5–29%)

Laboratory abnormality

Trait	Kui sageli seda täheldatakse
Fatty infiltration of liver	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SPEN and how often each is seen. Find out more at hpo.jax.org.

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