Traits

Traits linked to TMEM237

transmembrane protein 237

The Human Phenotype Ontology links 113 traits to TMEM237, by body system: features seen in people with one of the gene's rare conditions.

TMEM237

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Very often (80–99%)
Encephalocele	Very often (80–99%)
Cleft palate	Often (30–79%)
Decreased width of the skull	Often (30–79%)
Flat nose	Often (30–79%)
Full cheeks	Often (30–79%)
Little lower jaw	Often (30–79%)
Long face	Often (30–79%)
Sloping forehead	Often (30–79%)
Aplasia/Hypoplasia of the tongue	Sometimes (5–29%)
Cleft of the mouth	Sometimes (5–29%)
Dandy-Walker malformation	Sometimes (5–29%)
Grooved tongue	Sometimes (5–29%)
Highly arched eyebrow	Sometimes (5–29%)
Nasal tip, upturned	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Downward slanting of the opening between the eyelids	Not recorded
Eye folds	Not recorded
High forehead	Not recorded
Open mouth	Not recorded
Short philtrum	Not recorded
Tented mouth	Not recorded
Zygomatic flattening	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	Very often (80–99%)
Cerebellar vermis hypoplasia	Very often (80–99%)
Global developmental delay	Very often (80–99%)
Intellectual disability	Very often (80–99%)
Molar tooth sign on MRI	Very often (80–99%)
Abnormal gait	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Lobar holoprosencephaly	Often (30–79%)
Too much cerebrospinal fluid in the brain	Often (30–79%)
Abnormality of neuronal migration	Sometimes (5–29%)
Agenesis of cerebellar vermis	Sometimes (5–29%)
Agenesis of corpus callosum	Sometimes (5–29%)
Anencephaly	Sometimes (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
Meningocele	Sometimes (5–29%)
More grooves in brain	Sometimes (5–29%)
Small brainstem	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Underdevelopment of part of brain called corpus callosum	Sometimes (5–29%)
Intellectual disability, severe	Not recorded
Irritability	Not recorded

Abnormality of the eye

Trait	How often it is seen
Breakdown of light-sensitive cells in back of eye	Very often (80–99%)
Involuntary, rapid, rhythmic eye movements	Very often (80–99%)
Oculomotor apraxia	Very often (80–99%)
Abnormal chorioretinal morphology	Often (30–79%)
Abnormally small eyeball	Often (30–79%)
Absent/small iris	Often (30–79%)
Birth defect that causes a hole in the innermost layer at the back of the eye	Often (30–79%)
Blindness	Often (30–79%)
Cat eye	Often (30–79%)
Clouding of the lens of the eye	Often (30–79%)
Cornea of eye less than 10mm in diameter	Often (30–79%)
Cross-eyed	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Hardening of skin and connective tissue	Often (30–79%)
Optic atrophy	Often (30–79%)
Visual impairment	Often (30–79%)
Wide-set eyes	Often (30–79%)
Absence of eyeballs	Sometimes (5–29%)
Cerebral visual impairment	Sometimes (5–29%)
Morning glory anomaly	Sometimes (5–29%)
Notched pupil	Sometimes (5–29%)
Deeply set eye	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Cystic kidney disease	Very often (80–99%)
Kidney damage	Very often (80–99%)
Multicystic kidney dysplasia	Very often (80–99%)
Ambiguous external genitalia	Often (30–79%)
Undescended testes	Often (30–79%)
Double ureter	Sometimes (5–29%)
Male pseudohermaphroditism	Sometimes (5–29%)
Renal failure	Sometimes (5–29%)
True hermaphroditism	Sometimes (5–29%)
Urethral atresia	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Extra little finger	Very often (80–99%)
Extra toe attached near the little toe	Very often (80–99%)
Talipes	Often (30–79%)
Bowing of the long bones	Sometimes (5–29%)
Duplication of bones of the toes	Sometimes (5–29%)
Extra finger	Sometimes (5–29%)
Extra thumb	Sometimes (5–29%)
Postaxial polydactyly	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Excessive buildup of connective tissue and scarring of liver at birth	Very often (80–99%)
Feeding difficulties	Often (30–79%)
Feeding difficulties in infancy	Often (30–79%)
Cystic liver disease	Sometimes (5–29%)
Enlarged colon lacking nerve cells	Sometimes (5–29%)
Pancreatic cysts	Sometimes (5–29%)
Pancreatic fibrosis	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Often (30–79%)
Abnormal cardiovascular system morphology	Sometimes (5–29%)
Absent spleen	Sometimes (5–29%)
Accessory spleen	Sometimes (5–29%)
All organs on wrong side of body	Sometimes (5–29%)
Hole in heart wall separating two lower heart chambers	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Abnormal vertebral body morphology	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Abnormal pattern of respiration	Very often (80–99%)
Apnea	Very often (80–99%)
Episodic tachypnea	Very often (80–99%)
Increased respiratory rate or depth of breathing	Very often (80–99%)

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Often (30–79%)
Low-set ears	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding within the skull	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Abnormality of the hypothalamus-pituitary axis	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Growth delay	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 TMEM237 and how often each is seen. Find out more at hpo.jax.org.

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