Trăsături

Trăsături asociate cu BICRA

BRD4 interacting chromatin remodeling complex associated protein

Human Phenotype Ontology asociază 87 trăsături cu BICRA, 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
Bulbous nose	Des (30–79%)
Downward slanting of the opening between the eyelids	Des (30–79%)
Eye folds	Des (30–79%)
Frontal bossing	Des (30–79%)
High frontal hairline	Des (30–79%)
High palate	Des (30–79%)
Long eyelashes	Des (30–79%)
Monobrow	Des (30–79%)
Narrow forehead	Des (30–79%)
Prominent nasal bridge	Des (30–79%)
Prominent nasal tip	Des (30–79%)
Abnormally small head	Uneori (5–29%)
Bell's palsy	Uneori (5–29%)
Big calvaria	Uneori (5–29%)
Delayed cranial suture closure	Uneori (5–29%)
Depressed nasal bridge	Uneori (5–29%)
Full cheeks	Uneori (5–29%)
Highly arched eyebrow	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Long, narrow head	Uneori (5–29%)
Low frontal hairline	Uneori (5–29%)
Low hanging columella	Uneori (5–29%)
Midface retrusion	Uneori (5–29%)
Narrow eyelid opening	Uneori (5–29%)
Nasal tip, upturned	Uneori (5–29%)
Pointed chin	Uneori (5–29%)
Prominent area between the eyebrows	Uneori (5–29%)
Ridged cranial sutures	Uneori (5–29%)
Sparse scalp hair	Uneori (5–29%)
Submucous cleft hard palate	Uneori (5–29%)
Thick eyebrow	Uneori (5–29%)
Underdeveloped tissue around nostril	Uneori (5–29%)
Upward slanting of the opening between the eyelids	Uneori (5–29%)
Velopharyngeal incompetence	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Autism spectrum disorder	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Chiari malformation	Uneori (5–29%)
Difficulty sleeping	Uneori (5–29%)
Enlarged cerebellum	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Hippocampal atrophy	Uneori (5–29%)
Loss of developmental milestones	Uneori (5–29%)
Noncommunicating hydrocephalus	Uneori (5–29%)
Repetitive movements	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Low-set ears	Des (30–79%)
Ears rotated toward back of head	Uneori (5–29%)
Large earlobe	Uneori (5–29%)
Overfolding of the superior helices	Uneori (5–29%)
Prominent antihelix	Uneori (5–29%)
Prominent ear	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)
Simple ear	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Broad thumb	Uneori (5–29%)
Cutaneous syndactyly	Uneori (5–29%)
Fused forearm bones	Uneori (5–29%)
Partial hip dislocation	Uneori (5–29%)
Short thumb	Uneori (5–29%)
Slender finger	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cross-eyed	Des (30–79%)
Abnormally close eyes	Uneori (5–29%)
Close sighted	Uneori (5–29%)
Deeply set eye	Uneori (5–29%)
Farsightedness	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Des (30–79%)
Double-Jointed	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Oral motor hypotonia	Uneori (5–29%)
Scoliosis	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Chronic constipation	Des (30–79%)
Feeding difficulties	Des (30–79%)
Acid reflux	Uneori (5–29%)
Celiac disease	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Heart murmur	Uneori (5–29%)
Patent foramen ovale	Uneori (5–29%)
Tetralogy of Fallot	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Horseshoe kidney	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Undescended testes	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Des (30–79%)
Short stature	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Inverted nipples	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Underactive thyroid	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Small nail	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
High liver enzymes	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 BICRA și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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