Traits

Traits linked to SCAF4

SR-related CTD associated factor 4

The Human Phenotype Ontology links 36 traits to SCAF4, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	Cât de frecvent apare
Delayed speech and language development	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Aggressive behavior	Des (30–79%)
Autism spectrum disorder	Des (30–79%)
Epilepsy	Des (30–79%)
Degeneration of cerebellum	Uneori (5–29%)
Delayed ability to walk	Uneori (5–29%)
Meningocele	Uneori (5–29%)
Self-injurious behavior	Uneori (5–29%)
Tethered cord	Uneori (5–29%)
Underdevelopment of part of brain called corpus callosum	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Double-Jointed	Întotdeauna
Low muscle tone	Des (30–79%)
Funnel chest	Uneori (5–29%)
Hunched back	Uneori (5–29%)
Scoliosis	Uneori (5–29%)
Spasticity and rigidity of muscles	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Bulbous nose	Întotdeauna
High palate	Întotdeauna
Long philtrum	Întotdeauna
Abnormally small head	Uneori (5–29%)
Eye folds	Uneori (5–29%)

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
Hole in heart wall separating two lower heart chambers	Des (30–79%)
Aortic valve has two leaflets rather than three	Uneori (5–29%)
Underdeveloped aortic arch	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Feeding difficulties	Întotdeauna
Abnormal connection between trachea and esophagus	Uneori (5–29%)
Absent anus	Uneori (5–29%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Multicystic kidney dysplasia	Des (30–79%)
Absent kidney on one side	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
Dropped arches	Întotdeauna
Bunion	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Esodeviation	Întotdeauna

Growth abnormality

Trait	Cât de frecvent apare
Obesity	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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SCAF4 and how often each is seen. Find out more at hpo.jax.org.

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