Traits

Traits linked to ESAM

endothelial cell adhesion molecule

The Human Phenotype Ontology links 87 traits to ESAM, by body system: features seen in people with one of the gene's rare conditions.

ESAM

Abnormality of the nervous system

Trait	How often it is seen
Abnormal CNS myelination	Always
Cavity within brain	Always
Colpocephaly	Always
Corpus callosum atrophy	Always
Delayed ability to sit	Always
Delayed speech and language development	Always
Dilated third ventricle	Always
Dystonia	Always
Epilepsy	Always
Gliosis	Always
Grand mal seizures	Always
Hydranencephaly	Always
Hypsarrhythmia	Always
Inability to walk	Always
Increased reflexes	Always
Lateral ventricle dilatation	Always
More grooves in brain	Always
Multifocal cerebral white matter abnormalities	Always
Partial absence of the septum pellucidum	Always
Periventricular cysts	Always
Periventricular leukomalacia	Always
Reduced cerebral white matter volume	Always
Seizure affecting one half of brain	Always
Severe global developmental delay	Always
Too much cerebrospinal fluid in the brain	Very often (80–99%)
Thin corpus callosum	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Big lower jaw	Always
Broad forehead	Always
Bulbous nose	Always
Corners of eye widely separated	Always
Cystic hygroma	Always
Drooping lower lip	Always
Full cheeks	Always
High palate	Always
Highly arched eyebrow	Always
Long eyelashes	Always
Monobrow	Always
Narrow forehead	Always
Narrow palate	Always
Nasal tip, upturned	Always
Retinal arterial tortuosity	Always
Small retruded chin	Always
Smooth philtrum	Always
Tented mouth	Always
Triangular face	Always
Upward slanting of the opening between the eyelids	Always
Wide nasal bridge	Always
Abnormally small head	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal deposits of calcium in the brain	Always
Basal ganglia calcification	Always
Funnel chest	Always
Intracerebral periventricular calcifications	Always
Involuntary muscle stiffness, contraction, or spasm	Always
Low muscle tone	Always
Poor head control	Always
Spastic tetraparesis	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Cyst on spleen	Always
Enlarged heart	Always
Patent foramen ovale	Always
Pulmonary artery atresia	Always
Tricuspid regurgitation	Always

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding in brain	Always
Bleeding within the skull	Always
Retinal bleeding	Always
Vitreous hemorrhage	Always

Abnormality of limbs

Trait	How often it is seen
Club feet	Always
Hammertoe	Always
Increased mobility in finger joint	Always
Increased muscle tone of arm or leg	Always

Abnormality of the eye

Trait	How often it is seen
Cat eye	Always
Involuntary, rapid, rhythmic eye movements	Always
Lazy eye	Always
Retinal detachment	Always

Abnormality of the respiratory system

Trait	How often it is seen
Floppy windpipe	Always
Partial or complete collapse of part or entire lung	Always
Poorly developed lungs	Always
Respiratory function loss	Always

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Hepatic sinusoidal dilatation	Always
Pancreatic inflammation	Always

Growth abnormality

Trait	How often it is seen
Decreased body weight	Always
Short stature	Always
Small for gestational age	Always

Laboratory abnormality

Trait	How often it is seen
Brain swelling	Always
Hydrops fetalis	Always

Abnormality of the ear

Trait	How often it is seen
Ears rotated toward back of head	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Always

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

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