Traits

Traits linked to VPS37A

VPS37A subunit of ESCRT-I

The Human Phenotype Ontology links 24 traits to VPS37A, 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
Increased reflexes	Always
Clonus	Very often (80–99%)
Upper limb hyperreflexia	Very often (80–99%)
Delayed speech and language development	Often (30–79%)
Dystonia	Sometimes (5–29%)
Impaired vibratory sensation	Sometimes (5–29%)
Limb dystonia	Sometimes (5–29%)
Cortical dysplasia	Rarely (1–4%)
Impaired proprioception	Rarely (1–4%)
Ventriculomegaly	Rarely (1–4%)
Abnormal gait	Not recorded
Cognitive impairment	Not recorded
Global developmental delay	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always
Hunched back	Always
Pigeon chest	Often (30–79%)
Spastic paraplegia	Not recorded

Abnormality of limbs

Trait	How often it is seen
Lower limb hypertonia	Always
Upper limb hypertonia	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)
Abnormal auditory canal morphology	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Excessive hair growth	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Rarely (1–4%)

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 VPS37A and how often each is seen. Find out more at hpo.jax.org.

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