Traits

Traits linked to MCTP2

multiple C2 and transmembrane domain containing 2

The Human Phenotype Ontology links 59 traits to MCTP2, by body system: features seen in people with one of the gene's rare conditions.

MCTP2

Abnormality of head or neck

Trait	How often it is seen
Abnormal dentition	Often (30–79%)
Abnormally small head	Often (30–79%)
Broad nasal tip	Often (30–79%)
Cleft palate	Often (30–79%)
Cleft tongue	Often (30–79%)
Coarse facial features	Often (30–79%)
Flat back of skull	Often (30–79%)
Little lower jaw	Often (30–79%)
Narrow opening between the eyelids	Often (30–79%)
Short philtrum	Often (30–79%)
Thin red part of the upper lip	Often (30–79%)
Triangular face	Often (30–79%)
Upward slanting of the opening between the eyelids	Often (30–79%)
Cystic hygroma	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Club feet	Often (30–79%)
Curvature of finger	Often (30–79%)
Hip dislocation	Often (30–79%)
Knock knees	Often (30–79%)
Short finger	Often (30–79%)
Short outermost finger bone	Often (30–79%)
Small hand	Often (30–79%)
Webbed skin of 2nd-3rd toes	Often (30–79%)
Single transverse palmar crease	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal aortic arch morphology	Often (30–79%)
Aortic valve has two leaflets rather than three	Often (30–79%)
Mitral stenosis	Often (30–79%)
Narrowing of aorta	Often (30–79%)
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis	Sometimes (5–29%)
Mitral atresia	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Underdeveloped left heart	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Very often (80–99%)
Small for gestational age	Very often (80–99%)
Faltering weight	Often (30–79%)
Growth delay	Often (30–79%)
Growth delay as children	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Hypospadias	Often (30–79%)
Short penis	Often (30–79%)
Undescended testes	Often (30–79%)
Abnormal localisation of kidneys	Sometimes (5–29%)
Multicystic kidney dysplasia	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Attention deficit	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Delayed speech and language development	Often (30–79%)
Epilepsy	Often (30–79%)
Global developmental delay	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Low 1-minute APGAR score	Often (30–79%)
Only one artery in umbilical cord instead of two	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Often (30–79%)
Low-set ears	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Often (30–79%)
Wide-set eyes	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Small nail	Often (30–79%)
Aplasia cutis congenita over the scalp vertex	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Congenital diaphragmatic hernia	Often (30–79%)
Hypermobility of all joints	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased circulating insulin-like growth factor 1 concentration	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Poorly developed lungs	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 MCTP2 and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test