Traits

Traits linked to TTC5

tetratricopeptide repeat domain 5

The Human Phenotype Ontology links 38 traits to TTC5, 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
Degeneration of cerebrum	Always
Delayed speech and language development	Always
Intellectual disability	Always
Corpus callosum atrophy	Very often (80–99%)
Delayed ability to sit	Very often (80–99%)
Delayed ability to stand	Very often (80–99%)
Lateral ventricle dilatation	Very often (80–99%)
Simplified gyral pattern	Very often (80–99%)
Absent speech development	Often (30–79%)
Agenesis of corpus callosum	Sometimes (5–29%)
Aggressive behavior	Sometimes (5–29%)
Autism spectrum disorder	Sometimes (5–29%)
Difficulty sleeping	Sometimes (5–29%)
Dilated third ventricle	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Leukoencephalopathy	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)
Tented mouth	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Broad eyebrow	Sometimes (5–29%)
Broad forehead	Sometimes (5–29%)
Broad head shape	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Long face	Sometimes (5–29%)
Long philtrum	Sometimes (5–29%)
Low frontal hairline	Sometimes (5–29%)
Pointed chin	Sometimes (5–29%)
Prominent nose	Sometimes (5–29%)
Short philtrum	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Afro-textured hair	Sometimes (5–29%)
Dry skin	Sometimes (5–29%)
Excessive hairiness	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Often (30–79%)
Hunched back	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	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 TTC5 and how often each is seen. Find out more at hpo.jax.org.

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