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	How often it is seen
Delayed speech and language development	Always
Global developmental delay	Always
Intellectual disability	Always
Aggressive behavior	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Epilepsy	Often (30–79%)
Degeneration of cerebellum	Sometimes (5–29%)
Delayed ability to walk	Sometimes (5–29%)
Meningocele	Sometimes (5–29%)
Self-injurious behavior	Sometimes (5–29%)
Tethered cord	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always
Low muscle tone	Often (30–79%)
Funnel chest	Sometimes (5–29%)
Hunched back	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Spasticity and rigidity of muscles	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Bulbous nose	Always
High palate	Always
Long philtrum	Always
Abnormally small head	Sometimes (5–29%)
Eye folds	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Aortic valve has two leaflets rather than three	Sometimes (5–29%)
Underdeveloped aortic arch	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Abnormal connection between trachea and esophagus	Sometimes (5–29%)
Absent anus	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Multicystic kidney dysplasia	Often (30–79%)
Absent kidney on one side	Sometimes (5–29%)
Hydronephrosis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Always
Bunion	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Esodeviation	Always

Growth abnormality

Trait	How often it is seen
Obesity	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

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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