Trăsături

Trăsături asociate cu NIPBL

NIPBL cohesin loading factor

Human Phenotype Ontology asociază 165 trăsături cu NIPBL, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Thick eyebrow	Întotdeauna
Abnormally small head	Foarte des (80–99%)
Boxer's nasal deformity	Foarte des (80–99%)
Broad head shape	Foarte des (80–99%)
Broad nasal tip	Foarte des (80–99%)
Curly eyelashes	Foarte des (80–99%)
Decreased volume of lip	Foarte des (80–99%)
Delayed eruption of teeth	Foarte des (80–99%)
Depressed nasal bridge	Foarte des (80–99%)
Downturned corners of mouth	Foarte des (80–99%)
High palate	Foarte des (80–99%)
Highly arched eyebrow	Foarte des (80–99%)
Little lower jaw	Foarte des (80–99%)
Long eyelashes	Foarte des (80–99%)
Long philtrum	Foarte des (80–99%)
Low frontal hairline	Foarte des (80–99%)
Low hairline at back of neck	Foarte des (80–99%)
Monobrow	Foarte des (80–99%)
Nasal tip, upturned	Foarte des (80–99%)
Short neck	Foarte des (80–99%)
Short nose	Foarte des (80–99%)
Thin red part of the upper lip	Foarte des (80–99%)
Widely spaced teeth	Foarte des (80–99%)
Inflammation of eyelids	Des (30–79%)
Narrowing of the tear duct	Des (30–79%)
Smooth philtrum	Des (30–79%)
Blockage of the rear opening of the nasal cavity	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Increased nuchal translucency	Uneori (5–29%)
Narrow forehead	Uneori (5–29%)
Cleft upper lip	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Short foot	Întotdeauna
Attachment of thumb close to wrist	Foarte des (80–99%)
Fused toes	Foarte des (80–99%)
Shortened 1st long bone of hand	Foarte des (80–99%)
Small hand	Foarte des (80–99%)
Smaller or shorter than typical limbs	Foarte des (80–99%)
Bilateral single transverse palmar creases	Des (30–79%)
Curvature of little finger	Des (30–79%)
Elbow dislocation	Des (30–79%)
Fused forearm bones	Des (30–79%)
Limited elbow extension	Des (30–79%)
Single transverse palmar crease	Des (30–79%)
Webbed fingers or toes	Des (30–79%)
Abnormal morphology of ulna	Uneori (5–29%)
Curvature of digit	Uneori (5–29%)
Duplication of big toe bone	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)
Oligodactyly	Uneori (5–29%)
Short fingers or toes	Uneori (5–29%)
Talipes	Uneori (5–29%)
Phocomelia	Rar (1–4%)
Absent fingers	Neînregistrat
Dislocated radial head	Neînregistrat
Elbow flexion contracture	Neînregistrat
Hypoplastic radial head	Neînregistrat
Underdeveloped outer large forearm bone	Neînregistrat
Webbed 2nd and 3rd toes	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed CNS myelination	Întotdeauna
Motor delay	Întotdeauna
Repetitive movements	Întotdeauna
Abnormally low-pitched voice	Foarte des (80–99%)
Attention deficit	Foarte des (80–99%)
Delayed speech and language development	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Intellectual disability, severe	Foarte des (80–99%)
Abnormal speech pattern	Des (30–79%)
Aggressive behavior	Des (30–79%)
Anxiety	Des (30–79%)
Autism spectrum disorder	Des (30–79%)
Difficulty sleeping	Des (30–79%)
Epilepsy	Des (30–79%)
Obsessive compulsive behavior	Des (30–79%)
Self-injurious behavior	Des (30–79%)
Absent/small cerebellum	Uneori (5–29%)
Autism	Uneori (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Uneori (5–29%)
Peripheral neuropathy	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Coronal hypospadias	Întotdeauna
Hydronephrosis	Întotdeauna
Hypospadias	Des (30–79%)
Multicystic kidney dysplasia	Des (30–79%)
Small labia majora	Des (30–79%)
Underdeveloped penis	Des (30–79%)
Undescended testes	Des (30–79%)
Vesicoureteral reflux	Des (30–79%)
Abnormality of the uterus	Uneori (5–29%)
Cystic kidney disease	Uneori (5–29%)
Horseshoe kidney	Uneori (5–29%)
Primary amenorrhea	Uneori (5–29%)
Renal failure	Uneori (5–29%)
Small kidneys	Uneori (5–29%)
Abnormal kidney location	Neînregistrat
Reduced renal corticomedullary differentiation	Neînregistrat
Small male external genitalia	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Poor suck	Întotdeauna
Acid reflux	Foarte des (80–99%)
Absent anus	Des (30–79%)
Feeding difficulties	Des (30–79%)
Feeding difficulties in infancy	Des (30–79%)
Anteriorly placed anus	Uneori (5–29%)
Inguinal hernia	Uneori (5–29%)
Intestinal malrotation	Uneori (5–29%)
Pyloric stenosis	Uneori (5–29%)
Volvulus	Uneori (5–29%)
Malrotation of colon	Neînregistrat
Stomach hernia	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Close sighted	Des (30–79%)
Cornea of eye less than 10mm in diameter	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Phthisis bulbi	Des (30–79%)
Clouding of the lens of the eye	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Glaucoma	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Astigmatism	Neînregistrat
Bulging eye	Neînregistrat
Optic atrophy	Neînregistrat
Optic disc coloboma	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Spasticity and rigidity of muscles	Întotdeauna
Delayed bone maturation	Foarte des (80–99%)
Joint stiffness	Des (30–79%)
Abnormal formation of the hip	Uneori (5–29%)
Congenital diaphragmatic hernia	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Low muscle tone	Uneori (5–29%)
Permanent flexion of the finger or toe	Uneori (5–29%)
Extra ribs	Neînregistrat
Short sternum	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Cutis marmorata	Des (30–79%)
Heart murmur	Des (30–79%)
Abnormal cardiovascular system morphology	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Enlarged heart	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Narrowing of pulmonic valve	Uneori (5–29%)
Patent foramen ovale	Uneori (5–29%)
Tetralogy of Fallot	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Absent ear canal	Foarte des (80–99%)
Conductive deafness	Des (30–79%)
Ears rotated toward back of head	Des (30–79%)
Low-set ears	Des (30–79%)
Sensorineural hearing impairment	Des (30–79%)
Hearing impairment	Uneori (5–29%)
Large ears	Uneori (5–29%)
Abnormal incisura morphology	Neînregistrat
Middle ear infection	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay as children	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Faltering weight	Des (30–79%)
Prenatal growth deficiency	Des (30–79%)
Severe growth delay in children	Des (30–79%)
Truncal obesity	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Premature birth	Des (30–79%)
Prenatal movement abnormality	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive hairiness over body	Foarte des (80–99%)
Excessive hairiness	Des (30–79%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Low platelet count	Neînregistrat

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Small nipples	Des (30–79%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Delayed puberty	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Pneumonia	Neînregistrat

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Weak cry	Întotdeauna

Laboratory abnormality

Trăsătură	Cât de frecvent apare
High urine protein levels	Uneori (5–29%)

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 NIPBL și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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