Trăsături

Trăsături asociate cu B3GLCT

beta 3-glucosyltransferase

Human Phenotype Ontology asociază 133 trăsături cu B3GLCT, 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
Broad head shape	Foarte des (80–99%)
Exaggerated cupid's bow	Foarte des (80–99%)
Little lower jaw	Foarte des (80–99%)
Long face	Foarte des (80–99%)
Long philtrum	Foarte des (80–99%)
Round face	Foarte des (80–99%)
Short columella	Foarte des (80–99%)
Short neck	Foarte des (80–99%)
Thin red part of the upper lip	Foarte des (80–99%)
Broad neck	Des (30–79%)
Cleft palate	Des (30–79%)
Cleft upper lip	Des (30–79%)
Frontal bossing	Des (30–79%)
Narrow eyelid opening	Des (30–79%)
Pit in front of the ear	Des (30–79%)
Prominent forehead	Des (30–79%)
Short opening between the eyelids	Des (30–79%)
Skin tag in front of the ear	Des (30–79%)
Upward slanting of the opening between the eyelids	Des (30–79%)
Webbed neck	Des (30–79%)
Widely spaced teeth	Des (30–79%)
Abnormally small head	Uneori (5–29%)
Big calvaria	Uneori (5–29%)
Both sided cleft lip	Uneori (5–29%)
Depressed nasal bridge	Uneori (5–29%)
Nasal tip, upturned	Uneori (5–29%)
Short nose	Uneori (5–29%)
Wide mouth	Uneori (5–29%)
Absence of upper lateral incisor	Neînregistrat
Cone shaped front tooth	Neînregistrat
Decreased size of maxilla	Neînregistrat
Decreased volume of lip	Neînregistrat
Deformity of the skull	Neînregistrat
Short lingual frenulum	Neînregistrat
Wider-than-typical soft spot of skull	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Broad palm	Întotdeauna
Short palm	Întotdeauna
Curvature of little finger	Foarte des (80–99%)
Short fingers or toes	Foarte des (80–99%)
Short foot	Foarte des (80–99%)
Short toe	Foarte des (80–99%)
Smaller or shorter than typical limbs	Foarte des (80–99%)
Fused toes	Des (30–79%)
Disproportionately short upper portion of limb	Uneori (5–29%)
Attachment of thumb close to wrist	Neînregistrat
Broad foot	Neînregistrat
High-arched foot	Neînregistrat
Limited elbow movement	Neînregistrat
Short long bone of foot	Neînregistrat
Shortened long bone of hand	Neînregistrat
Single transverse palmar crease	Neînregistrat
Webbed fingers or toes	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Anterior chamber synechiae	Foarte des (80–99%)
Corneal opacity	Foarte des (80–99%)
Glaucoma	Foarte des (80–99%)
Peters anomaly	Foarte des (80–99%)
Abnormality of vision	Des (30–79%)
Clouding of the lens of the eye	Des (30–79%)
Cornea of eye less than 10mm in diameter	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Wide-set eyes	Des (30–79%)
Optic atrophy	Uneori (5–29%)
Visual impairment	Uneori (5–29%)
Cat eye	Neînregistrat
Close sighted	Neînregistrat
Drooping upper eyelid	Neînregistrat
Hole in the back of the eye	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Hypospadias	Des (30–79%)
Undescended testes	Des (30–79%)
Absent/small kidney	Uneori (5–29%)
Double ureter	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Multicystic kidney dysplasia	Uneori (5–29%)
Small clitoris	Uneori (5–29%)
Small uterus	Uneori (5–29%)
Small kidneys	Neînregistrat
Small labia majora	Neînregistrat
Underdeveloped vagina	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties in infancy	Des (30–79%)
Absent anus	Uneori (5–29%)
Extra kidney	Uneori (5–29%)
Inguinal hernia	Uneori (5–29%)
Intestinal fistula	Uneori (5–29%)
Umbilical hernia	Uneori (5–29%)
Anteriorly placed anus	Neînregistrat
Biliary tract abnormality	Neînregistrat
Bilobate gallbladder	Neînregistrat
Gap between large left and right abdominal muscles	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Global developmental delay	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Too much cerebrospinal fluid in the brain	Des (30–79%)
Aplasia/Hypoplasia of the corpus callosum	Uneori (5–29%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Uneori (5–29%)
Spina bifida occulta	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)
Agenesis of corpus callosum	Neînregistrat
Degeneration of cerebrum	Neînregistrat
Epilepsy	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiac septum morphology	Des (30–79%)
Abnormality of lung artery	Des (30–79%)
Narrowing of pulmonic valve	Des (30–79%)
Patent ductus arteriosus	Uneori (5–29%)
Abnormal pulmonary vein morphology	Rar (1–4%)
Bicuspid pulmonary valve	Rar (1–4%)
Underdeveloped left heart	Rar (1–4%)
An opening in the wall separating the top two chambers of the heart	Neînregistrat
Hole in heart wall separating two lower heart chambers	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Cockleshell ear	Des (30–79%)
Conductive deafness	Uneori (5–29%)
Ears rotated toward back of head	Uneori (5–29%)
Hearing impairment	Neînregistrat
Low-set ears	Neînregistrat
Narrow ear canal	Neînregistrat
Prominent ear	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormal shape of pelvic girdle bone	Neînregistrat
Double-Jointed	Neînregistrat
Funnel chest	Neînregistrat
Missing part of vertebrae	Neînregistrat
Scoliosis	Neînregistrat
Square pelvis bone	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Disproportionate short-limb short stature	Întotdeauna
Prenatal growth deficiency	Foarte des (80–99%)
Growth delay as children	Des (30–79%)
Short stature	Des (30–79%)
Birth length less than 3rd percentile	Neînregistrat
Decreased body weight	Neînregistrat

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Less than 10 fetal movements in 12 hours	Des (30–79%)
High levels of amniotic fluid	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Anterior hypopituitarism	Uneori (5–29%)
Underactive thyroid gland from birth	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Spinal dimple	Uneori (5–29%)
Increased facial hair growth	Neînregistrat

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Wide-spaced nipples	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 B3GLCT și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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