Trăsături

Trăsături asociate cu SMARCD1

SWI/SNF related BAF chromatin remodeling complex subunit D1

Human Phenotype Ontology asociază 84 trăsături cu SMARCD1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

SMARCD1

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Coarse facial features	Foarte des (80–99%)
Full lower lip	Foarte des (80–99%)
Prominent eyelashes	Foarte des (80–99%)
Thick eyebrow	Foarte des (80–99%)
Wide mouth	Foarte des (80–99%)
Abnormal facial shape	Des (30–79%)
Broad nasal tip	Des (30–79%)
Broad philtrum	Des (30–79%)
Delayed eruption of teeth	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
High palate	Des (30–79%)
Low frontal hairline	Des (30–79%)
Low hairline at back of neck	Des (30–79%)
Nasal tip, upturned	Des (30–79%)
Recurrent colds	Des (30–79%)
Short nose	Des (30–79%)
Sparse scalp hair	Des (30–79%)
Thick nasal alae	Des (30–79%)
Thin red part of the upper lip	Des (30–79%)
Wide nasal base	Des (30–79%)
Bifid uvula	Uneori (5–29%)
Bulbous nose	Uneori (5–29%)
Cleft soft palate	Uneori (5–29%)
Dandy-Walker malformation	Uneori (5–29%)
Downturned corners of mouth	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
Narrow forehead	Uneori (5–29%)
Prominent metopic ridge	Uneori (5–29%)
Abnormally small head	Rar (1–4%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Delayed speech and language development	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Delayed ability to walk	Foarte des (80–99%)
Behavioral abnormality	Des (30–79%)
Epilepsy	Des (30–79%)
Intellectual disability, severe	Des (30–79%)
IQ between 34 and 49	Des (30–79%)
Absent speech development	Uneori (5–29%)
Agenesis of corpus callosum	Uneori (5–29%)
Aggressive behavior	Uneori (5–29%)
Autism spectrum disorder	Uneori (5–29%)
More active than typical	Uneori (5–29%)
Oral aversion	Uneori (5–29%)
Simplified gyral pattern	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Decreased muscle tone in infant	Des (30–79%)
Delayed bone maturation	Des (30–79%)
Double-Jointed	Des (30–79%)
Low muscle tone	Des (30–79%)
Scoliosis	Des (30–79%)
Hernia	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormality of the heart	Des (30–79%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Tetralogy of Fallot	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Cross-eyed	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Visual impairment	Des (30–79%)
Close sighted	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Excessive hair growth	Foarte des (80–99%)
Small nail	Foarte des (80–99%)
Excessive hairiness	Des (30–79%)
Small fifth toenail	Des (30–79%)
Underdeveloped fifth fingernail	Des (30–79%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties in infancy	Întotdeauna
Feeding difficulties	Foarte des (80–99%)
Birth defect in which part of esophagus did not develop	Uneori (5–29%)
Hepatoblastoma	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormality of the genitourinary system	Des (30–79%)
Undescended testes	Des (30–79%)
Horseshoe kidney	Uneori (5–29%)
Hypospadias	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Curvature of digit	Des (30–79%)
Short 5th finger	Des (30–79%)
Small hand	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay	Des (30–79%)
Growth delay as children	Des (30–79%)
Prenatal growth deficiency	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Hearing impairment	Des (30–79%)
Uplifted earlobe	Des (30–79%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Aspiration pneumonia	Des (30–79%)
Recurrent infections	Des (30–79%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Papillary thyroid carcinoma	Rar (1–4%)

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 SMARCD1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu