Traits

Traits linked to SSR4

signal sequence receptor subunit 4

The Human Phenotype Ontology links 34 traits to SSR4, by body system: features seen in people with one of the gene's rare conditions.

SSR4

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Always
Abnormally small head	Always
Abnormality of the red part of the upper lip	Very often (80–99%)
Wide mouth	Very often (80–99%)
Widely spaced teeth	Very often (80–99%)
Little lower jaw	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
Intellectual disability	Always
Epilepsy	Often (30–79%)
Abnormal periventricular white matter morphology	Sometimes (5–29%)
Absent septum pellucidum	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
Generalized decreased muscle tone	Always
Low muscle tone	Always
Abnormality of the skeletal system	Sometimes (5–29%)
Joint dislocation	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Abnormality of the gastrointestinal tract	Very often (80–99%)
Acid reflux	Very often (80–99%)
Feeding difficulties	Very often (80–99%)
Vomiting	Very often (80–99%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormality of coagulation	Sometimes (5–29%)
Abnormality of the coagulation cascade	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the cardiovascular system	Sometimes (5–29%)
Patent ductus arteriosus	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Very often (80–99%)
Deeply set eye	Very often (80–99%)

Abnormality of the genitourinary system

Trait	How often it is seen
Horseshoe kidney	Sometimes (5–29%)
Hypospadias	Not recorded

Abnormality of limbs

Trait	How often it is seen
Curvature of digit	Not recorded

Abnormality of the ear

Trait	How often it is seen
Large ears	Very often (80–99%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)

Laboratory abnormality

Trait	How often it is seen
Type I transferrin isoform profile	Not recorded

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 SSR4 and how often each is seen. Find out more at hpo.jax.org.

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