Traits

Traits linked to TMEM147

transmembrane protein 147

The Human Phenotype Ontology links 43 traits to TMEM147, 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 speech and language development	Always
Intellectual disability	Always
Motor delay	Always
Absent speech development	Often (30–79%)
Thin corpus callosum	Often (30–79%)
Aggressive behavior	Sometimes (5–29%)
Anxiety	Sometimes (5–29%)
Lateral ventricle dilatation	Sometimes (5–29%)
More active than typical	Sometimes (5–29%)
Parietal cortical atrophy	Sometimes (5–29%)
Reduced cerebral white matter volume	Sometimes (5–29%)
Self-injurious behavior	Sometimes (5–29%)
Tonic seizure	Sometimes (5–29%)
Hand mirror movements	Rarely (1–4%)
Delayed CNS myelination	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Coarse facial features	Often (30–79%)
Depressed nasal bridge	Often (30–79%)
Eye folds	Often (30–79%)
Long philtrum	Often (30–79%)
Monobrow	Often (30–79%)
Prominent forehead	Often (30–79%)
Smooth philtrum	Often (30–79%)
Tented mouth	Often (30–79%)
Wide mouth	Often (30–79%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Drooping lower lip	Sometimes (5–29%)
Long face	Sometimes (5–29%)
Sparse eyebrow	Sometimes (5–29%)
Thin red part of the upper lip	Sometimes (5–29%)
Full lower lip	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Sometimes (5–29%)
Single transverse palmar crease	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Patent foramen ovale	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Rarely (1–4%)
Sensorineural hearing impairment	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Curly hair	Sometimes (5–29%)
Sparse hair	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Sometimes (5–29%)
Kyphoscoliosis	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Hyposegmentation of neutrophil nuclei	Not recorded

Abnormality of the eye

Trait	How often it is seen
Wide-set eyes	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 TMEM147 and how often each is seen. Find out more at hpo.jax.org.

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