Trăsături

Trăsături asociate cu NELFA

negative elongation factor complex member A

Human Phenotype Ontology asociază 95 trăsături cu NELFA, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

NELFA

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormal lip	Foarte des (80–99%)
Abnormality of the mouth	Foarte des (80–99%)
Abnormality of the philtrum	Foarte des (80–99%)
Abnormally small head	Foarte des (80–99%)
Downturned corners of mouth	Foarte des (80–99%)
Downward slanting of the opening between the eyelids	Foarte des (80–99%)
Eye folds	Foarte des (80–99%)
Failure of development of between one and six teeth	Foarte des (80–99%)
Frontal bossing	Foarte des (80–99%)
High forehead	Foarte des (80–99%)
High frontal hairline	Foarte des (80–99%)
Highly arched eyebrow	Foarte des (80–99%)
Little lower jaw	Foarte des (80–99%)
Long, narrow head	Foarte des (80–99%)
Low hairline at back of neck	Foarte des (80–99%)
Short philtrum	Foarte des (80–99%)
Wide nasal bridge	Foarte des (80–99%)
Cleft upper lip	Des (30–79%)
Cranial defect	Des (30–79%)
Delayed eruption of teeth	Des (30–79%)
Pit in front of the ear	Des (30–79%)
Taurodontia	Des (30–79%)
Cleft palate	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Foarte des (80–99%)
Abnormal vertebral body morphology	Des (30–79%)
Abnormal vertebral morphology	Des (30–79%)
Abnormality of the chest	Des (30–79%)
Abnormality of the vertebral column	Des (30–79%)
Congenital diaphragmatic hernia	Des (30–79%)
Delayed bone maturation	Des (30–79%)
Hunched back	Des (30–79%)
Hypoplastic pubic ramus	Des (30–79%)
Rib fusion	Des (30–79%)
Rib segmentation abnormalities	Des (30–79%)
Scoliosis	Des (30–79%)
Hernia	Uneori (5–29%)
Osteoporosis	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Wide-set eyes	Foarte des (80–99%)
Cat eye	Des (30–79%)
Drooping upper eyelid	Des (30–79%)
Optic atrophy	Des (30–79%)
Bulging eye	Uneori (5–29%)
Cross-eyed	Uneori (5–29%)
Enlarged cornea	Uneori (5–29%)
Glaucoma	Uneori (5–29%)
Hardening of skin and connective tissue	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Noninflammatory retina disease	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Ataxia	Foarte des (80–99%)
Epilepsy	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Intellectual disability, severe	Foarte des (80–99%)
Difficulty sleeping	Des (30–79%)
Tethered cord	Des (30–79%)
Abnormality of movement	Uneori (5–29%)
Absent/small cerebellum	Uneori (5–29%)
Agenesis of corpus callosum	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormal feet structure	Des (30–79%)
Club feet	Des (30–79%)
Extra thumb	Des (30–79%)
Long slender fingers	Des (30–79%)
Short big toe	Des (30–79%)
Short thumb	Des (30–79%)
Split hand	Des (30–79%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Hypospadias	Foarte des (80–99%)
Abnormality of the kidney	Des (30–79%)
Undescended testes	Des (30–79%)
Abnormality of the reproductive system	Uneori (5–29%)
Absent uterus	Uneori (5–29%)
Streak ovary	Uneori (5–29%)
Urinary tract abnormalities	Uneori (5–29%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiac septum morphology	Des (30–79%)
Abnormal cardiovascular system morphology	Des (30–79%)
Abnormal heart valve morphology	Des (30–79%)
An opening in the wall separating the top two chambers of the heart	Des (30–79%)
Strawberry mark	Des (30–79%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Foarte des (80–99%)
Small ears	Foarte des (80–99%)
Hearing impairment	Des (30–79%)
Chronic infections of the middle ear	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Des (30–79%)
Abdominal situs inversus	Uneori (5–29%)
Abnormality of the gallbladder	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Dry skin	Des (30–79%)
Focal absence of scalp tissue	Des (30–79%)
Spinal dimple	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Foarte des (80–99%)
Prenatal growth deficiency	Foarte des (80–99%)
Disproportionate tall stature	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Abnormality of the immune system	Uneori (5–29%)
Recurrent respiratory infections	Uneori (5–29%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Decreased circulating IgA concentration	Des (30–79%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Less than 10 fetal movements in 12 hours	Foarte des (80–99%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Absent/small nipples	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Absent/small lungs	Des (30–79%)

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

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