Traits

Traits linked to TMEM63A

transmembrane protein 63A

The Human Phenotype Ontology links 15 traits to TMEM63A, 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 ability to walk	Always
Delayed CNS myelination	Always
Ataxia	Often (30–79%)
Head titubation	Often (30–79%)
Babinski sign	Sometimes (5–29%)
Intention tremor	Sometimes (5–29%)
Lack of coordination of movement	Sometimes (5–29%)
Specific learning disability	Sometimes (5–29%)
Leukodystrophy	Not recorded

Abnormality of the eye

Trait	How often it is seen
Pendular nystagmus	Always
Close sighted	Often (30–79%)
Optic atrophy	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Poor head control	Often (30–79%)
Generalized decreased muscle tone	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hypospadias	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 TMEM63A and how often each is seen. Find out more at hpo.jax.org.

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