Traits

Traits linked to ERGIC1

endoplasmic reticulum-golgi intermediate compartment 1

The Human Phenotype Ontology links 38 traits to ERGIC1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of limbs

Trait	How often it is seen
Ankle flexion contracture	Often (30–79%)
Decreased arm strength	Often (30–79%)
Elbow flexion contracture	Often (30–79%)
Inability to straighten knee	Often (30–79%)
Lower limb muscle weakness	Often (30–79%)
Wrist flexion contracture	Often (30–79%)
Acetabular dysplasia	Sometimes (5–29%)
Equinovarus deformity	Sometimes (5–29%)
Hip contracture	Sometimes (5–29%)
Hip dislocation	Sometimes (5–29%)
Rocker bottom foot	Sometimes (5–29%)
Club feet	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Flexed joint that cannot be straightened	Always
EMG: chronic denervation signs	Very often (80–99%)
Muscle degeneration	Often (30–79%)
Decreased lung function due to weak breathing muscles	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Arthrogryposis multiplex congenita	Not recorded
Congenital contracture	Not recorded
Muscle tissue disease	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Asymmetry of the posterior head	Sometimes (5–29%)
Little lower jaw	Sometimes (5–29%)
Myopathic facies	Sometimes (5–29%)
Scaphocephaly	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Feet or buttocks of fetus positioned near opening of uterus	Sometimes (5–29%)
Less than 10 fetal movements in 12 hours	Sometimes (5–29%)
Low levels of amniotic fluid	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Absent reflexes	Often (30–79%)
Brain imaging abnormality	Sometimes (5–29%)
Muscle twitch	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the heart	Sometimes (5–29%)
Abnormal cardiovascular system morphology	Not recorded

Abnormality of the integument

Trait	How often it is seen
Abnormal fingerprints	Sometimes (5–29%)
Skin dimple	Sometimes (5–29%)

Abnormality of the digestive system

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

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	Sometimes (5–29%)

Abnormality of the respiratory system

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

Laboratory abnormality

Trait	How often it is seen
Mildly elevated creatine kinase	Often (30–79%)

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 ERGIC1 and how often each is seen. Find out more at hpo.jax.org.

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