Traits

Traits linked to TMEM63C

transmembrane protein 63C

The Human Phenotype Ontology links 11 traits to TMEM63C, 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
Babinski sign	Always
Delayed motor skills	Always
Increased reflexes	Always
Intellectual disability, mild	Always
Overactive lower leg reflex	Always
Delayed speech and language development	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Lower limb spasticity	Always
Spastic walk	Always
Excessive inward curvature of lower spine	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	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 TMEM63C and how often each is seen. Find out more at hpo.jax.org.

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