Trăsături

Trăsături asociate cu RFWD3

ring finger and WD repeat domain 3

Human Phenotype Ontology asociază 117 trăsături cu RFWD3, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Absent thumb	Întotdeauna
Radial ray deficiency	Întotdeauna
Underdeveloped outer large forearm bone	Întotdeauna
Abnormality of the thumb	Foarte des (80–99%)
Abnormality of the upper limb	Foarte des (80–99%)
Aplasia/Hypoplasia of the radius	Foarte des (80–99%)
Abnormal feet structure	Uneori (5–29%)
Abnormal morphology of ulna	Uneori (5–29%)
Abnormality of the thighbone	Uneori (5–29%)
Absent/small fingers	Uneori (5–29%)
Clubbed toes	Uneori (5–29%)
Curvature of little finger	Uneori (5–29%)
Dropped arches	Uneori (5–29%)
Finger syndactyly	Uneori (5–29%)
Finger-like thumb	Uneori (5–29%)
Fused toes	Uneori (5–29%)
Hip dislocation	Uneori (5–29%)
Underdeveloped inner large forearm bone	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormally shaped kidney	Des (30–79%)
Urinary tract abnormalities	Des (30–79%)
Abnormal localisation of kidneys	Uneori (5–29%)
Abnormal preputium morphology	Uneori (5–29%)
Abnormality of the testis	Uneori (5–29%)
Abnormality of the uterus	Uneori (5–29%)
Absent sperm in semen	Uneori (5–29%)
Absent testes	Uneori (5–29%)
Absent/small kidney	Uneori (5–29%)
Decreased fertility in males	Uneori (5–29%)
Frequent urinary tract infections	Uneori (5–29%)
Heart shaped uterus	Uneori (5–29%)
Hydroureter	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Renal failure	Uneori (5–29%)
Undescended testes	Uneori (5–29%)
Small kidneys	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Întotdeauna
Almond shaped eyes	Des (30–79%)
Short opening between the eyelids	Des (30–79%)
Abnormality of the eyelid	Uneori (5–29%)
Aplasia/Hypoplasia of the uvula	Uneori (5–29%)
Blockage of the rear opening of the nasal cavity	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Eye folds	Uneori (5–29%)
Facial asymmetry	Uneori (5–29%)
Frontal bossing	Uneori (5–29%)
High palate	Uneori (5–29%)
Little lower jaw	Uneori (5–29%)
Long, narrow head	Uneori (5–29%)
Sloping forehead	Uneori (5–29%)
Upward slanting of the opening between the eyelids	Uneori (5–29%)
Midface retrusion	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormality of the eye	Uneori (5–29%)
Abnormality of vision	Uneori (5–29%)
Abnormally small eyeball	Uneori (5–29%)
Absent/small iris	Uneori (5–29%)
Astigmatism	Uneori (5–29%)
Bulging eye	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Visual impairment	Uneori (5–29%)
Wide-set eyes	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Multiple small spleens	Întotdeauna
Abnormal cardiac septum morphology	Des (30–79%)
Abnormal aortic morphology	Uneori (5–29%)
Abnormal aortic valve morphology	Uneori (5–29%)
Abnormal carotid artery morphology	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Arteriovenous malformation	Uneori (5–29%)
Enlarged and thickened heart muscle	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Tetralogy of Fallot	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Chiari malformation	Întotdeauna
Global developmental delay	Des (30–79%)
Intellectual disability	Des (30–79%)
Abnormal shape of nervous system	Uneori (5–29%)
Cranial nerve paralysis	Uneori (5–29%)
Increased reflexes	Uneori (5–29%)
Split spine	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)
Ventriculomegaly	Uneori (5–29%)
Abnormal periventricular white matter morphology	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Absence or narrowing of first part of small bowel	Întotdeauna
Abnormal connection between trachea and esophagus	Uneori (5–29%)
Abnormality of the liver	Uneori (5–29%)
Absent anus	Uneori (5–29%)
Duodenal stenosis	Uneori (5–29%)
Enlarged colon lacking nerve cells	Uneori (5–29%)
Meckel diverticulum	Uneori (5–29%)
Umbilical hernia	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Megakaryocyte dysplasia	Întotdeauna
Myelodysplasia	Întotdeauna
Abnormality of blood and blood-forming tissues	Foarte des (80–99%)
Decreased blood leukocyte number	Foarte des (80–99%)
Low number of red blood cells or hemoglobin	Foarte des (80–99%)
Low platelet count	Foarte des (80–99%)
Pyridoxine-responsive sideroblastic anemia	Foarte des (80–99%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal skin pigmentation	Foarte des (80–99%)
Irregular hyperpigmentation	Foarte des (80–99%)
Patchy loss of skin color	Foarte des (80–99%)
Multiple birthmarks	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay	Întotdeauna
Short stature	Foarte des (80–99%)
Prenatal growth deficiency	Uneori (5–29%)
Weight loss	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Abnormally shaped ears	Uneori (5–29%)
Hearing abnormality	Uneori (5–29%)
Hearing impairment	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased response to growth hormone stimulation test	Întotdeauna
Abnormality of the hypothalamus-pituitary axis	Uneori (5–29%)
Decreased activity of gonads	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Scoliosis	Des (30–79%)
Low solidness and mass of the bones	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Abnormality of chromosome stability	Foarte des (80–99%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Abnormal tissue mass	Des (30–79%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Low levels of amniotic fluid	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 RFWD3 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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