Traits

Traits linked to TMEM165

transmembrane protein 165

The Human Phenotype Ontology links 27 traits to TMEM165, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Double-Jointed	Always
Low muscle tone	Always
Osteoporosis	Always
Abnormal development of end part of bone	Not recorded
Kyphoscoliosis	Not recorded
Muscle weakness	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Development of small head that was not present at birth	Always
Zygomatic flattening	Always
Amelogenesis imperfecta	Sometimes (5–29%)
Midface retrusion	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood creatine phosphokinase	Always
Elevated circulating aspartate aminotransferase concentration	Always
Elevated circulating alanine aminotransferase concentration	Often (30–79%)
Unexplained fevers	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Epilepsy	Sometimes (5–29%)
Abnormal cerebral white matter morphology	Not recorded
Global developmental delay	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Growth delay	Always
Short stature	Not recorded

Abnormality of limbs

Trait	How often it is seen
Diaphyseal dysplasia	Always
Metaphyseal dysplasia	Always

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Not recorded
Low-set ears	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low platelet count	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Hemolytic-uremic syndrome	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 TMEM165 and how often each is seen. Find out more at hpo.jax.org.

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