Požymiai

Su KDM2B susiję požymiai

lysine demethylase 2B

Žmogaus fenotipo ontologija sieja 133 požymių su KDM2B, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

KDM2B

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Abnormally large tongue	Visada
Asymmetry of the posterior head	Visada
Bifid uvula	Visada
Big calvaria	Visada
Crease in skin under the eye	Visada
Downward slanting of the opening between the eyelids	Visada
Flat back of skull	Visada
Midface retrusion	Visada
Prominent nasal tip	Visada
Unopened tear duct	Visada
Wide nose	Visada
Receding chin	Dažnai (30–79%)
Abnormally small head	Kartais (5–29%)
Broad forehead	Kartais (5–29%)
Decreased volume of lip	Kartais (5–29%)
Deep philtrum	Kartais (5–29%)
Depressed nasal bridge	Kartais (5–29%)
Drooping lower lip	Kartais (5–29%)
Exaggerated cupid's bow	Kartais (5–29%)
Eye folds	Kartais (5–29%)
Facial asymmetry	Kartais (5–29%)
Full lips	Kartais (5–29%)
High forehead	Kartais (5–29%)
Highly arched eyebrow	Kartais (5–29%)
Long face	Kartais (5–29%)
Monobrow	Kartais (5–29%)
Narrow forehead	Kartais (5–29%)
Narrow mouth	Kartais (5–29%)
Nasal tip, upturned	Kartais (5–29%)
Open mouth	Kartais (5–29%)
Posterior fossa cyst	Kartais (5–29%)
Round face	Kartais (5–29%)
Short opening between the eyelids	Kartais (5–29%)
Upward slanting of the opening between the eyelids	Kartais (5–29%)
Wide nasal bridge	Kartais (5–29%)

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Absent speech development	Visada
Delayed ability to sit	Visada
Delayed fine motor development	Visada
Delayed motor skills	Visada
IQ between 34 and 49	Visada
Repetitive movements	Visada
Skin-picking	Visada
Toe walking	Visada
Delayed ability to walk	Labai dažnai (80–99%)
Global developmental delay	Labai dažnai (80–99%)
Motor delay	Labai dažnai (80–99%)
Autism spectrum disorder	Dažnai (30–79%)
Delayed speech and language development	Dažnai (30–79%)
Extra-axial cerebrospinal fluid accumulation	Dažnai (30–79%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Dažnai (30–79%)
Intellectual disability	Dažnai (30–79%)
Intellectual disability, mild	Dažnai (30–79%)
Intellectual disability, severe	Dažnai (30–79%)
Mild global developmental delay	Dažnai (30–79%)
Moderate global developmental delay	Dažnai (30–79%)
Attention deficit	Kartais (5–29%)
Delayed CNS myelination	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Lateral ventricle dilatation	Kartais (5–29%)
Severe global developmental delay	Kartais (5–29%)
Specific learning disability	Kartais (5–29%)
Thin corpus callosum	Kartais (5–29%)
Too much cerebrospinal fluid in the brain	Kartais (5–29%)
Ventriculomegaly	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Clubbed toes	Visada
Curvature of digit	Visada
Dropped arches	Visada
Extra toe attached near the little toe	Visada
Gap between 1st and 2nd toes	Visada
Knock knees	Visada
Lower limb hypertonia	Visada
Lower limb muscle weakness	Visada
More than five fingers or toes on hands or feet	Visada
Prominent fingertip pads	Visada
Talipes calcaneovalgus	Visada
Tapered finger	Visada

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Enlarged heart	Visada
Muscular ventricular septal defect	Visada
Secundum atrial septal defect	Visada
An opening in the wall separating the top two chambers of the heart	Dažnai (30–79%)
Aortic valve has two leaflets rather than three	Dažnai (30–79%)
Narrowing of pulmonic valve	Dažnai (30–79%)
Patent ductus arteriosus	Dažnai (30–79%)
Hole in heart wall separating two lower heart chambers	Kartais (5–29%)
Mitral regurgitation	Kartais (5–29%)
Patent foramen ovale	Kartais (5–29%)
Right ventricular dilatation	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Astigmatism	Visada
Close sighted	Visada
Cross-eyed	Visada
Duane anomaly	Visada
Enlarged cornea	Visada
Notched pupil	Visada
Outward facing eye ball	Visada
Abnormally close eyes	Kartais (5–29%)
Absence of eyeballs	Kartais (5–29%)
Deeply set eye	Kartais (5–29%)
Wide-set eyes	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Anteverted ears	Visada
Ears rotated toward back of head	Visada
Low-set ears	Visada
Prominent antihelix	Visada
Sensorineural hearing impairment	Visada
Simple ear	Visada
Absent crus of helix	Kartais (5–29%)
Overfolded ears	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Funnel chest	Visada
Hunched back	Visada
Involuntary muscle stiffness, contraction, or spasm	Visada
Joint contracture	Visada
Pigeon chest	Visada
Scoliosis	Visada
Spasticity and rigidity of muscles	Visada
Low muscle tone	Dažnai (30–79%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Anteriorly placed anus	Visada
Constipation	Visada
Inguinal hernia	Visada
Poor suck	Visada
Umbilical hernia	Visada
Feeding difficulties	Dažnai (30–79%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Bilateral cryptorchidism	Visada
Cystic kidney disease	Visada
Unilateral cryptorchidism	Visada
Absent kidney on one side	Dažnai (30–79%)
Renal cortical cysts	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Visada
General overgrowth	Visada
Short stature	Dažnai (30–79%)
Small for gestational age	Kartais (5–29%)

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Fetal tachycardia	Kartais (5–29%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Early onset of puberty	Visada

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Excessive hair growth	Visada

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Softening of voice box tissue	Visada

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su KDM2B susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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