Traits

Traits linked to ERMARD

ER membrane associated RNA degradation

The Human Phenotype Ontology links 66 traits to ERMARD, 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
Epilepsy	Always
Focal motor seizure	Always
Hypsarrhythmia	Always
Infantile spasms	Always
Mild global developmental delay	Always
Periventricular nodular heterotopia	Always
Abnormal cerebral cortex morphology	Very often (80–99%)
Abnormal cerebral white matter morphology	Very often (80–99%)
Abnormality of neuronal migration	Very often (80–99%)
Colpocephaly	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Gray matter heterotopia	Very often (80–99%)
Intellectual disability, mild	Very often (80–99%)
More grooves in brain	Very often (80–99%)
Periventricular heterotopia	Very often (80–99%)
Small cerebellum	Very often (80–99%)
Underdevelopment of part of brain called corpus callosum	Very often (80–99%)
Abnormal shape of nervous system	Often (30–79%)
Inability to coordinate movements when walking	Often (30–79%)
Lack of coordination of movement	Often (30–79%)
Seizure affecting one half of brain	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormal facial shape	Very often (80–99%)
High, narrow palate	Very often (80–99%)
Little lower jaw	Very often (80–99%)
Low frontal hairline	Very often (80–99%)
Full lips	Often (30–79%)
Asymmetry of the posterior head	Sometimes (5–29%)
Big calvaria	Sometimes (5–29%)
Broad philtrum	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Long, narrow head	Sometimes (5–29%)
Prominent forehead	Sometimes (5–29%)
Prominent metopic ridge	Sometimes (5–29%)
Short neck	Sometimes (5–29%)
Short opening between the eyelids	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Decreased muscle tone in infant	Very often (80–99%)
Hernia	Very often (80–99%)
Scoliosis	Very often (80–99%)
Double-Jointed	Often (30–79%)
Absent/small ribs	Sometimes (5–29%)
Shoulder dislocation	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Bunion	Sometimes (5–29%)
Curvature of digit	Sometimes (5–29%)
Dislocated kneecap	Sometimes (5–29%)
Talipes calcaneovalgus	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal heart valve morphology	Often (30–79%)
Aortic regurgitation	Often (30–79%)
Patent ductus arteriosus	Often (30–79%)
Bulge in wall of large artery that carries blood away from heart	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Always
Wide-set eyes	Very often (80–99%)
Farsightedness	Often (30–79%)
Involuntary, rapid, rhythmic eye movements	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Enlarged male breast	Sometimes (5–29%)
Wide-spaced nipples	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Very often (80–99%)
Pyloric stenosis	Very often (80–99%)

Abnormality of the genitourinary system

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

Abnormality of the integument

Trait	How often it is seen
Thin skin	Often (30–79%)
Hyperkeratosis	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Obesity	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding tendency	Very often (80–99%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Very often (80–99%)

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

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