Traits

Traits linked to TMEM94

transmembrane protein 94

The Human Phenotype Ontology links 58 traits to TMEM94, by body system: features seen in people with one of the gene's rare conditions.

TMEM94

Abnormality of head or neck

Trait	How often it is seen
Highly arched eyebrow	Always
Monobrow	Always
Pointed chin	Always
Triangular face	Always
Depressed nasal bridge	Very often (80–99%)
Short nose	Very often (80–99%)
Long philtrum	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Exaggerated cupid's bow	Sometimes (5–29%)
Prominent nose	Sometimes (5–29%)
Short philtrum	Sometimes (5–29%)
Smooth philtrum	Sometimes (5–29%)
Webbed neck	Sometimes (5–29%)
Big calvaria	Not recorded
Nasal tip, upturned	Not recorded
Wide nasal bridge	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Patent ductus arteriosus	Often (30–79%)
Double outlet right ventricle	Sometimes (5–29%)
Parachute mitral valve	Sometimes (5–29%)
Patent foramen ovale	Sometimes (5–29%)
Pulmonary artery atresia	Sometimes (5–29%)
Tetralogy of Fallot	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Delayed speech and language development	Always
Specific learning disability	Always
Motor delay	Very often (80–99%)
Chiari type I malformation	Sometimes (5–29%)
Grand mal seizures	Sometimes (5–29%)
Seizure affecting one half of brain	Sometimes (5–29%)
Delayed ability to walk	Not recorded
Global developmental delay	Not recorded

Abnormality of limbs

Trait	How often it is seen
Long fingers	Often (30–79%)
Long toe	Sometimes (5–29%)
Overlapping toe	Sometimes (5–29%)
Cutaneous syndactyly	Not recorded
Overlapping fingers	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Sometimes (5–29%)
Intestinal malrotation	Sometimes (5–29%)
Mesenteric cyst	Sometimes (5–29%)
Omphalocele	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Large earlobe	Always
Low-set ears	Very often (80–99%)
Ears rotated toward back of head	Sometimes (5–29%)
Underfolded helix	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Sometimes (5–29%)
Close sighted	Not recorded
Deeply set eye	Not recorded
Wide-set eyes	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Scoliosis	Often (30–79%)
Funnel chest	Sometimes (5–29%)
Generalized decreased muscle tone	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hypospadias	Sometimes (5–29%)
Undescended testes	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Recurrent respiratory infections	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Excessive hair growth	Always

Abnormality of the respiratory system

Trait	How often it is seen
Poorly developed lungs	Not recorded

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 TMEM94 and how often each is seen. Find out more at hpo.jax.org.

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