Traits

Traits linked to RSRC1

arginine and serine rich coiled-coil 1

The Human Phenotype Ontology links 16 traits to RSRC1, 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
Attention deficit	Always
Delayed speech and language development	Always
Febrile seizure (within the age range of 3 months to 6 years)	Always
Global developmental delay	Always
Intellectual disability	Always
Motor delay	Always
Severe temper tantrums	Always
Autism spectrum disorder	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Drooling	Always
Receding chin	Always
Wide nasal bridge	Always
Abnormally small head	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always

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 RSRC1 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test