Trăsături

Trăsături asociate cu EBP

EBP cholestenol delta-isomerase

Human Phenotype Ontology asociază 131 trăsături cu EBP, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

EBP

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Bulbous nose	Întotdeauna
High palate	Întotdeauna
Little lower jaw	Întotdeauna
Long neck	Întotdeauna
Narrow eyelid opening	Întotdeauna
Prominent nasal bridge	Întotdeauna
Redundant neck skin	Întotdeauna
Small anterior fontanelle	Întotdeauna
Smooth philtrum	Întotdeauna
Upward slanting of the opening between the eyelids	Întotdeauna
Abnormality of the bridge of the nose	Des (30–79%)
Abnormality of the skull	Des (30–79%)
Asymmetry of the mouth	Des (30–79%)
Corners of eye widely separated	Des (30–79%)
Dandy-Walker malformation	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
Facial asymmetry	Des (30–79%)
Frontal bossing	Des (30–79%)
Midface retrusion	Des (30–79%)
Thickened skin folds of neck	Des (30–79%)
Wider-than-typical soft spot of skull	Des (30–79%)
Cleft palate	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
Hair loss on scalp from scarring condition	Uneori (5–29%)
Sparse eyebrow	Uneori (5–29%)
Sparse eyelashes	Uneori (5–29%)
Boxer's nasal deformity	Neînregistrat
Flat face	Neînregistrat
Short neck	Neînregistrat
Small retruded chin	Neînregistrat
Zygomatic flattening	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Întotdeauna
Low muscle tone in trunk	Întotdeauna
Speckled calcifications in end part of bone	Foarte des (80–99%)
Abnormal bone maturation of vertebra	Des (30–79%)
Anterior rib punctate calcifications	Des (30–79%)
Generalized decreased muscle tone	Des (30–79%)
Hunched back	Des (30–79%)
Scoliosis	Des (30–79%)
Flexed joint that cannot be straightened	Uneori (5–29%)
Hypoplastic cervical vertebrae	Uneori (5–29%)
Kyphoscoliosis	Uneori (5–29%)
Missing part of vertebrae	Uneori (5–29%)
Neuropathic spinal arthropathy	Uneori (5–29%)
Speckled calcifications in bone end parts in neonates	Uneori (5–29%)
Abnormal shape of pelvic girdle bone	Neînregistrat
Abnormality of the chest	Neînregistrat
Calcific stippling	Neînregistrat
Punctate vertebral calcifications	Neînregistrat
Spasticity and rigidity of muscles	Neînregistrat
Tracheal calcification	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Broad big toe	Întotdeauna
Long fingers	Întotdeauna
Overlapping fingers	Întotdeauna
Overlapping toe	Întotdeauna
Disproportionately short upper portion of limb	Des (30–79%)
Extra finger	Des (30–79%)
Increased muscle tone of arm or leg	Des (30–79%)
Left and right leg differ in length or width	Des (30–79%)
Unequal size of arms	Des (30–79%)
Webbed 2nd and 3rd toes	Des (30–79%)
Club feet	Uneori (5–29%)
Club foot on both sides	Uneori (5–29%)
Dislocated kneecap	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)
Postaxial polydactyly	Uneori (5–29%)
Asymmetric limb shortening	Neînregistrat
More than five fingers or toes on hands or feet	Neînregistrat
Stippled calcification in carpal bones	Neînregistrat
Tarsal stippling	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Patchy hypopigmentation	Întotdeauna
Spinal dimple	Întotdeauna
Abnormality of the skin	Foarte des (80–99%)
Patchy baldness	Foarte des (80–99%)
Erythematous plaque	Des (30–79%)
Ichthyosis	Des (30–79%)
Scaling skin	Des (30–79%)
Abnormal hair pattern	Uneori (5–29%)
Abnormality of the nail	Uneori (5–29%)
Coarse hair	Uneori (5–29%)
Congenital nonbullous ichthyosiform erythroderma	Uneori (5–29%)
Congenital ichthyosiform erythroderma	Neînregistrat
Sparse hair	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Absent speech development	Întotdeauna
Epilepsy	Întotdeauna
Global developmental delay	Întotdeauna
Abnormal auditory evoked potentials	Des (30–79%)
Abnormal social behavior	Des (30–79%)
Intellectual disability	Des (30–79%)
Too much cerebrospinal fluid in the brain	Des (30–79%)
Underdevelopment of part of brain called corpus callosum	Des (30–79%)
Aggressive behavior	Uneori (5–29%)
More active than typical	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Rar (1–4%)
IQ between 34 and 49	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Anterior polar cataract	Întotdeauna
Decreased clarity of vision	Întotdeauna
Inward turning cross eyed	Întotdeauna
Macular hypoplasia	Întotdeauna
Abnormally small eyeball	Des (30–79%)
Clouding of the lens of the eye	Des (30–79%)
Wide-set eyes	Des (30–79%)
Cornea of eye less than 10mm in diameter	Uneori (5–29%)
Glaucoma	Neînregistrat
Involuntary, rapid, rhythmic eye movements	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Întotdeauna
Low-set ears	Întotdeauna
Overfolded ears	Întotdeauna
Hearing impairment	Uneori (5–29%)
Abnormally shaped ears	Rar (1–4%)
Sensorineural hearing impairment	Rar (1–4%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Întotdeauna
Short stature	Des (30–79%)
Severe growth delay in children	Uneori (5–29%)
Growth delay as children	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated 8-dehydrocholesterol	Foarte des (80–99%)
Elevated 8(9)-cholestenol	Foarte des (80–99%)
Low blood sugar in newborn	Uneori (5–29%)
Fluid retention	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Crossed fused renal ectopia	Întotdeauna
Undescended testes	Des (30–79%)
Hydronephrosis	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Anomalous tracheal cartilage	Des (30–79%)
Abnormality of lung structure	Uneori (5–29%)
Narrowing of windpipe	Neînregistrat

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Abnormality of prenatal development or birth	Uneori (5–29%)
High levels of amniotic fluid	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Narrowing of aortic valve	Des (30–79%)
Abnormality of the heart	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Red scaly skin caused by inflammatory skin disease	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu EBP și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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