Traits

Traits linked to RILPL1

Rab interacting lysosomal protein like 1

The Human Phenotype Ontology links 52 traits to RILPL1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
EMG: myopathic abnormalities	Always
Rimmed vacuoles	Always
Weakness of outermost muscles	Always
Abnormal morphology of musculature of pharynx	Often (30–79%)
Autophagic vacuoles	Often (30–79%)
Decreased lung function due to weak breathing muscles	Often (30–79%)
Distal lower limb amyotrophy	Often (30–79%)
Fatty replacement of skeletal muscle	Often (30–79%)
Increased variability in muscle fiber diameter	Often (30–79%)
Progressive distal muscle weakness	Often (30–79%)
Fatigable weakness of bulbar muscles	Sometimes (5–29%)
Progressive proximal muscle weakness	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Absent reflexes	Always
Postural tremor	Always
Breathy speech	Very often (80–99%)
Difficulty articulating speech	Very often (80–99%)
Poor speech	Often (30–79%)
Weakness of the vocal cords	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Loss of ability to walk	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Leg paralysis	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Abnormality of facial muscles	Very often (80–99%)
Weakness of facial musculature	Very often (80–99%)
High palate	Often (30–79%)
High, narrow palate	Often (30–79%)
Myopathic facies	Often (30–79%)
Tongue muscle weakness	Often (30–79%)
Abnormality of masseter muscle	Sometimes (5–29%)
Abnormality of orbicularis oris muscle	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Distal lower limb muscle weakness	Often (30–79%)
Distal upper limb amyotrophy	Often (30–79%)
Distal upper limb muscle weakness	Sometimes (5–29%)
Foot drop	Sometimes (5–29%)
Tibialis muscle weakness	Sometimes (5–29%)
Proximal upper limb muscle weakness	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Always
Paralysis or weakness of muscles within or surrounding outer part of eye	Very often (80–99%)
Progressive drooping of upper eyelid	Very often (80–99%)
Progressive external ophthalmoplegia	Very often (80–99%)
Weakness of muscles controlling eye movement	Very often (80–99%)
Double vision	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Poor swallowing	Very often (80–99%)
Impaired oropharyngeal swallow response	Often (30–79%)
Oral-pharyngeal dysphagia	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Bowing of the vocal cords	Often (30–79%)
Stiff lung or chest wall causing decreased lung volume	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Progressive sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent aspiration pneumonia	Often (30–79%)

Abnormality of the voice

Trait	How often it is seen
Nasal speech	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Weight loss	Very often (80–99%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	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 RILPL1 and how often each is seen. Find out more at hpo.jax.org.

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