Traits

Traits linked to OTUD7A

OTU deubiquitinase 7A

The Human Phenotype Ontology links 17 traits to OTUD7A, 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 sit	Always
Delayed ability to walk	Always
Delayed speech and language development	Always
Global developmental delay	Always
Inability to walk	Always
Atypical absence seizure	Often (30–79%)
Febrile seizure (within the age range of 3 months to 6 years)	Often (30–79%)
Focal impaired awareness tonic seizure	Often (30–79%)
Hypsarrhythmia	Often (30–79%)
Infantile spasms	Often (30–79%)
Thin corpus callosum	Often (30–79%)
Widened subarachnoid space	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Downward slanting of the opening between the eyelids	Often (30–79%)
Tented mouth	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Scoliosis	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Large ears	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 OTUD7A and how often each is seen. Find out more at hpo.jax.org.

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