Traits

Traits linked to TMEM67

transmembrane protein 67

The Human Phenotype Ontology links 190 traits to TMEM67, by body system: features seen in people with one of the gene's rare conditions.

TMEM67

Abnormality of the nervous system

Trait	How often it is seen
Cerebellar vermis hypoplasia	Always
Global developmental delay	Always
Intellectual disability	Always
Absent/small cerebellum	Very often (80–99%)
Ataxia	Very often (80–99%)
IQ between 34 and 49	Very often (80–99%)
Molar tooth sign on MRI	Very often (80–99%)
Abducens palsy	Often (30–79%)
Abnormal gait	Often (30–79%)
Cranial nerve paralysis	Often (30–79%)
Extreme thirst	Often (30–79%)
Increased reflexes	Often (30–79%)
Lobar holoprosencephaly	Often (30–79%)
Repetitive movements	Often (30–79%)
Small brainstem	Often (30–79%)
Thickened superior cerebellar peduncle	Often (30–79%)
Abnormal cerebral white matter morphology	Sometimes (5–29%)
Abnormality of neuronal migration	Sometimes (5–29%)
Aggressive behavior	Sometimes (5–29%)
Agitation	Sometimes (5–29%)
Anencephaly	Sometimes (5–29%)
Aplasia/Hypoplasia of the cerebellar vermis	Sometimes (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Diffuse cerebral atrophy	Sometimes (5–29%)
Dilated fourth ventricle	Sometimes (5–29%)
Dystonia	Sometimes (5–29%)
Epilepsy	Sometimes (5–29%)
More grooves in brain	Sometimes (5–29%)
Suicidal ideation	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Tremor	Sometimes (5–29%)
Elongated superior cerebellar peduncle	Not recorded
Enlarged fossa interpeduncularis	Not recorded

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Always
Involuntary, rapid, rhythmic eye movements	Always
Outward facing eye ball	Always
Rod-cone dystrophy	Always
Total ophthalmoplegia	Always
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%)
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%)
Deeply set eye	Often (30–79%)
Hardening of skin and connective tissue	Often (30–79%)
Notched pupil	Often (30–79%)
Optic atrophy	Often (30–79%)
Optic disc coloboma	Often (30–79%)
Visual impairment	Often (30–79%)
Wide-set eyes	Often (30–79%)
Absence of eyeballs	Sometimes (5–29%)
Asymmetric pupil sizes	Sometimes (5–29%)
Cross-eyed	Sometimes (5–29%)
Optic disc pallor	Sometimes (5–29%)
Retina degeneration	Sometimes (5–29%)
Blindness	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Multicystic kidney dysplasia	Always
Nephronophthisis	Always
Renal failure	Always
Stage 5 chronic kidney disease	Always
Abnormal renal interstitial morphology	Often (30–79%)
Ambiguous external genitalia	Often (30–79%)
Chronic kidney disease	Often (30–79%)
Hyperechogenic kidneys	Often (30–79%)
Kidney damage	Often (30–79%)
Reduced renal corticomedullary differentiation	Often (30–79%)
Renal corticomedullary cysts	Often (30–79%)
Small kidneys	Often (30–79%)
Thickening of the tubular basement membrane	Often (30–79%)
Tubular luminal dilatation	Often (30–79%)
Undescended testes	Often (30–79%)
Absent kidney on one side	Sometimes (5–29%)
Cystic kidney disease	Sometimes (5–29%)
Double ureter	Sometimes (5–29%)
Kidney degeneration	Sometimes (5–29%)
Male pseudohermaphroditism	Sometimes (5–29%)
True hermaphroditism	Sometimes (5–29%)
Urethral atresia	Sometimes (5–29%)
Increased urine output	Not recorded
Multiple small medullary renal cysts	Not recorded
Renal tubular atrophy	Not recorded
Tubular basement membrane disintegration	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Hepatic fibrosis	Always
Abnormality of the liver	Very often (80–99%)
Enlarged liver	Very often (80–99%)
Excessive buildup of connective tissue and scarring of liver at birth	Very often (80–99%)
Intrahepatic biliary atresia	Very often (80–99%)
Malformation of the hepatic ductal plate	Very often (80–99%)
Bile duct proliferation	Often (30–79%)
Feeding difficulties in infancy	Often (30–79%)
Reduced number of intrahepatic bile ducts	Often (30–79%)
Slowed or blocked flow of bile from liver	Often (30–79%)
Accumulation of fluid in the abdomen	Sometimes (5–29%)
Chronic liver failure	Sometimes (5–29%)
Cystic liver disease	Sometimes (5–29%)
Enlarged colon lacking nerve cells	Sometimes (5–29%)
Enlarged vein in esophagus	Sometimes (5–29%)
Inguinal hernia	Sometimes (5–29%)
Intrahepatic bile duct dilatation	Sometimes (5–29%)
Liver cancer	Sometimes (5–29%)
Pancreatic cysts	Sometimes (5–29%)
Pancreatic fibrosis	Sometimes (5–29%)
Scar tissue replaces healthy tissue in the liver	Sometimes (5–29%)
Abdomen abnormality	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Increased thickness of skull cap	Always
Abnormally small head	Very often (80–99%)
Encephalocele	Very often (80–99%)
Brain tissue sticks out through back of skull	Often (30–79%)
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%)
Big calvaria	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%)
Round face	Not recorded
Wide mouth	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Always
Low muscle tone	Always
Osteopenia	Always
Osteoporosis	Always
Short long bone	Always
Abnormality of the skeletal system	Very often (80–99%)
Abnormal shape of long bone	Often (30–79%)
Abnormal skeletal development	Often (30–79%)
Small end part of bone	Often (30–79%)
Small wings of the pelvic girdle	Often (30–79%)
Abnormal vertebral body morphology	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Generalized decreased muscle tone	Not recorded
Involuntary muscle stiffness, contraction, or spasm	Not recorded

Abnormality of limbs

Trait	How often it is seen
Bowing of outer large bone of the forearm	Always
Short neck of thighbone	Always
Extra little finger	Very often (80–99%)
Extra toe attached near the little toe	Very often (80–99%)
Abnormality of the hipbone socket	Often (30–79%)
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%)
More than five fingers or toes on hands or feet	Not recorded
Short fingers or toes	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged liver and spleen	Often (30–79%)
High blood pressure	Often (30–79%)
Portal hypertension	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%)
Carotid artery dilatation	Sometimes (5–29%)
Increased spleen size	Sometimes (5–29%)
Aneurysm	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Reduced circulating growth hormone concentration	Always
Hypopituitarism	Very often (80–99%)
Abnormality of the hypothalamus-pituitary axis	Sometimes (5–29%)
Anterior hypopituitarism	Not recorded
Decreased response to growth hormone stimulation test	Not recorded
Low thyroid gland function due to abnormal pituitary gland	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Always
Ears rotated toward back of head	Often (30–79%)
Hearing impairment	Often (30–79%)
Low-set ears	Sometimes (5–29%)
Conductive deafness	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%)
Breathing dysregulation	Not recorded

Growth abnormality

Trait	How often it is seen
Obesity	Always
Abnormality of body height	Often (30–79%)
Growth delay	Often (30–79%)
Short stature	Not recorded

Laboratory abnormality

Trait	How often it is seen
High liver enzymes	Very often (80–99%)
Abnormal urinary electrolyte concentration	Often (30–79%)
Elevated alkaline phosphatase	Often (30–79%)
High bili total	Often (30–79%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	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 TMEM67 and how often each is seen. Find out more at hpo.jax.org.

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