특성

SPEN 연관 특성

spen family transcriptional repressor

인간 표현형 온톨로지가 SPEN에 연결하는 특성은 154개이며, 신체 계통별로 나뉩니다. 이 특성들은 이 유전자의 희귀 질환 중 하나를 가진 사람들에게서 관찰되는 특징입니다.

Abnormality of head or neck

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

Abnormality of the nervous system

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

Abnormality of the cardiovascular system

특성	나타나는 빈도
Abnormal cardiovascular system morphology	자주 (30–79%)
Abnormal cardiac septum morphology	가끔 (5–29%)
Abnormal heart valve morphology	가끔 (5–29%)
Abnormality of the spleen	가끔 (5–29%)
Aortic arch aneurysm	가끔 (5–29%)
Hole in heart wall separating two lower heart chambers	가끔 (5–29%)
Patent ductus arteriosus	가끔 (5–29%)
Spider veins	가끔 (5–29%)
Strawberry mark	가끔 (5–29%)
Stretched and thinned heart muscle	가끔 (5–29%)
Tetralogy of Fallot	가끔 (5–29%)

Abnormality of the eye

특성	나타나는 빈도
Deeply set eye	매우 자주 (80–99%)
Abnormality of vision	자주 (30–79%)
Cross-eyed	자주 (30–79%)
Severe farsightedness	자주 (30–79%)
Absent pigmentation in the eye	가끔 (5–29%)
Clouding of the lens of the eye	가끔 (5–29%)
Involuntary, rapid, rhythmic eye movements	가끔 (5–29%)
Optic atrophy	가끔 (5–29%)
Visual impairment	가끔 (5–29%)
Wide-set eyes	가끔 (5–29%)

Abnormality of the musculoskeletal system

특성	나타나는 빈도
Low muscle tone	매우 자주 (80–99%)
11 pairs of ribs	가끔 (5–29%)
Abnormal formation of the hip	가끔 (5–29%)
Cleft ribs	가끔 (5–29%)
Hunched back	가끔 (5–29%)
Joint stiffness	가끔 (5–29%)
Muscle tissue disease	가끔 (5–29%)
Narrow spinal canal	가끔 (5–29%)
Rib fusion	가끔 (5–29%)
Scoliosis	가끔 (5–29%)

Abnormality of limbs

특성	나타나는 빈도
Permanent flexion of the finger	매우 자주 (80–99%)
Short fingers or toes	매우 자주 (80–99%)
Short foot	매우 자주 (80–99%)
Curvature of little finger	자주 (30–79%)
Dropped arches	가끔 (5–29%)
Duplication of bones of the toes	가끔 (5–29%)
High-arched foot	가끔 (5–29%)
Left and right leg differ in length or width	가끔 (5–29%)
Tapered finger	가끔 (5–29%)

Abnormality of the digestive system

특성	나타나는 빈도
Acid reflux	자주 (30–79%)
Constipation	자주 (30–79%)
Feeding difficulties in infancy	자주 (30–79%)
Poor swallowing	자주 (30–79%)
Abnormality of the anus	가끔 (5–29%)
Abnormality of the intestine	가끔 (5–29%)
Abnormality of the liver	가끔 (5–29%)
Annular pancreas	가끔 (5–29%)
Pyloric stenosis	가끔 (5–29%)

Abnormality of the ear

특성	나타나는 빈도
Ears rotated toward back of head	자주 (30–79%)
Conductive deafness	가끔 (5–29%)
Hearing impairment	가끔 (5–29%)
Large earlobe	가끔 (5–29%)
Low-set ears	가끔 (5–29%)
Sensorineural hearing impairment	가끔 (5–29%)
Small ears	가끔 (5–29%)

Abnormality of the genitourinary system

특성	나타나는 빈도
Abnormal female external genitalia	가끔 (5–29%)
Abnormality of the kidney	가끔 (5–29%)
Cystic kidney disease	가끔 (5–29%)
Hydronephrosis	가끔 (5–29%)
Hypospadias	가끔 (5–29%)
Underdeveloped penis	가끔 (5–29%)
Undescended testes	가끔 (5–29%)

Abnormality of the integument

특성	나타나는 빈도
Abnormal blistering of the skin	가끔 (5–29%)
Dry skin	가끔 (5–29%)
Excessive hairiness	가끔 (5–29%)
Excessive hairiness over body	가끔 (5–29%)
Flat, discolored area of skin	가끔 (5–29%)
Small nail	가끔 (5–29%)
Stretch marks	가끔 (5–29%)

Abnormality of the endocrine system

특성	나타나는 빈도
Decreased activity of gonads	가끔 (5–29%)
Early onset of puberty	가끔 (5–29%)
Underactive thyroid	가끔 (5–29%)

Growth abnormality

특성	나타나는 빈도
Faltering weight	매우 자주 (80–99%)
Obesity	가끔 (5–29%)
Short stature	가끔 (5–29%)

Abnormality of prenatal development or birth

특성	나타나는 빈도
Fetal distress	가끔 (5–29%)

Abnormality of the immune system

특성	나타나는 빈도
Abnormality of the immune system	가끔 (5–29%)

Laboratory abnormality

특성	나타나는 빈도
Fatty infiltration of liver	가끔 (5–29%)

Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.

출처

인간 표현형 온톨로지 릴리스 2026-09-01: SPEN에 연결된 특성과 각 특성이 관찰되는 빈도입니다. 자세한 내용은 hpo.jax.org에서 확인해 주세요.

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