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Traits

Traits linked to ELMO2

engulfment and cell motility 2

The Human Phenotype Ontology links 28 traits to ELMO2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of head or neck

TraitCât de frecvent apare
Ectopic tooth eruptionÎntotdeauna
Facial asymmetryÎntotdeauna
Full cheeksFoarte des (80–99%)
Gingival fibromatosisFoarte des (80–99%)
Narrow palateFoarte des (80–99%)
Delayed eruption of teethDes (30–79%)
Abnormal tooth enamelUneori (5–29%)

Abnormality of the eye

TraitCât de frecvent apare
Bulging eyeFoarte des (80–99%)
Visual lossFoarte des (80–99%)
Abnormal retinal pigmentationDes (30–79%)
Abnormal anterior chamber morphologyUneori (5–29%)

Abnormality of the nervous system

TraitCât de frecvent apare
EpilepsyFoarte des (80–99%)
Intellectual disabilityFoarte des (80–99%)
Rise in pressure inside skullDes (30–79%)

Abnormality of blood and blood-forming tissues

TraitCât de frecvent apare
Bleeding gumsÎntotdeauna
Hypochromic anemiaÎntotdeauna

Abnormality of the digestive system

TraitCât de frecvent apare
Gap between large left and right abdominal musclesÎntotdeauna
Umbilical herniaFoarte des (80–99%)

Abnormality of the ear

TraitCât de frecvent apare
Conductive deafnessUneori (5–29%)
Sensorineural hearing impairmentUneori (5–29%)

Abnormality of the integument

TraitCât de frecvent apare
Excessive hairiness over bodyDes (30–79%)
HyperkeratosisUneori (5–29%)

Abnormality of the musculoskeletal system

TraitCât de frecvent apare
Supraumbilical rapheÎntotdeauna
Breakdown of boneFoarte des (80–99%)

Laboratory abnormality

TraitCât de frecvent apare
Elevated alkaline phosphataseFoarte des (80–99%)
Diabetes mellitusUneori (5–29%)

Abnormality of the cardiovascular system

TraitCât de frecvent apare
Telangiectasia of the skinUneori (5–29%)

Growth abnormality

TraitCât de frecvent apare
Faltering weightFoarte des (80–99%)

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

  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to ELMO2 and how often each is seen. Find out more at hpo.jax.org.

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