Traits

Traits linked to ERLIN1

ER lipid raft associated 1

The Human Phenotype Ontology links 58 traits to ERLIN1, 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
Abnormal gait	Always
Abnormality of the cerebellum	Always
Increased reflexes	Always
Babinski sign	Very often (80–99%)
Lou Gehrig's disease	Very often (80–99%)
Overactive lower leg reflex	Very often (80–99%)
Abnormal speech pattern	Often (30–79%)
Arm dystonia	Often (30–79%)
Brisk reflexes	Often (30–79%)
Bulbar signs	Often (30–79%)
CNS hypomyelination	Often (30–79%)
Delayed ability to walk	Often (30–79%)
Difficulty articulating speech	Often (30–79%)
Dystonia	Often (30–79%)
Inability to walk	Often (30–79%)
Toe walking	Often (30–79%)
Absent reflexes	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Axial dystonia	Sometimes (5–29%)
Behavioral abnormality	Sometimes (5–29%)
Chorea	Sometimes (5–29%)
Clonus	Sometimes (5–29%)
Cognitive impairment	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Head titubation	Sometimes (5–29%)
Loss of articulate speech	Sometimes (5–29%)
Oromandibular dystonia	Sometimes (5–29%)
Parkinsonism	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Always
Lower limb spasticity	Always
Muscle degeneration	Always
Distal muscle wasting	Very often (80–99%)
Muscle weakness	Very often (80–99%)
Uncontrollable movement in upper arms	Very often (80–99%)
Lower-limb joint contracture	Often (30–79%)
Muscle fiber degeneration	Often (30–79%)
Spastic diplegia	Often (30–79%)
Spastic walk	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)
Upper-limb joint contracture	Often (30–79%)
Weakness of outermost muscles	Often (30–79%)
Lower limb pain	Sometimes (5–29%)
Neck flexion weakness	Sometimes (5–29%)
Opisthotonus	Sometimes (5–29%)
Proximal neurogenic muscle weakness	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Thoracic scoliosis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Abnormal rhythmic movements of ankle	Sometimes (5–29%)
Absent knee jerk reflex	Sometimes (5–29%)
Inability to straighten knee	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Sometimes (5–29%)
Retrocollis	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Gastrostomy tube feeding in infancy	Sometimes (5–29%)
Poor swallowing	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Supranuclear gaze palsy	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Wasting syndrome	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 ERLIN1 and how often each is seen. Find out more at hpo.jax.org.

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