Traits

Traits linked to SPOUT1

SPOUT domain containing methyltransferase 1

The Human Phenotype Ontology links 90 traits to SPOUT1, by body system: features seen in people with one of the gene's rare conditions.

SPOUT1

Abnormality of the nervous system

Trait	How often it is seen
Corpus callosum atrophy	Always
Decrease in size of the outer layer of the brain due to loss of brain cells	Always
Degeneration of cerebrum	Always
Delayed CNS myelination	Always
Dysgyria	Always
Encephalomalacia	Always
Encephalopathy	Always
Extra-axial cerebrospinal fluid accumulation	Always
Generalized brain degeneration	Always
Global developmental delay	Always
Infantile spasms	Always
Intellectual disability	Always
Irritability	Always
Periventricular leukomalacia	Always
Reduced cerebral white matter volume	Always
Teeth grinding	Always
Thin corpus callosum	Always
Too much cerebrospinal fluid in the brain	Always
Ventriculomegaly	Always
Hypsarrhythmia	Very often (80–99%)
Febrile seizure (within the age range of 3 months to 6 years)	Often (30–79%)
Generalized-onset seizure	Often (30–79%)
Multifocal seizures	Often (30–79%)
Interictal EEG abnormality	Sometimes (5–29%)
Seizure affecting one half of brain	Sometimes (5–29%)
Tonic seizure	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Bulbous nose	Always
Frontal bossing	Always
High forehead	Always
High, narrow palate	Always
Little lower jaw	Always
Long philtrum	Always
Long, narrow head	Always
Nasal tip, upturned	Always
Pointed chin	Always
Relatively large head	Always
Scaphocephaly	Always
Short philtrum	Always
Tented mouth	Always
Tongue tied	Always
Triangular face	Always
Upward slanting of the opening between the eyelids	Always
Wide nasal bridge	Always
Abnormally small head	Very often (80–99%)

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Often (30–79%)
Abnormal visual fixation	Sometimes (5–29%)
Abnormally small eyeball	Sometimes (5–29%)
Alternating cross eyes	Sometimes (5–29%)
Decreased clarity of vision	Sometimes (5–29%)
Farsightedness	Sometimes (5–29%)
Involuntary, rapid, rhythmic eye movements	Sometimes (5–29%)
Leukocoria	Sometimes (5–29%)
Optic disc pallor	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Acid reflux	Always
Constipation	Always
Enterocolitis	Always
Feeding difficulties	Always
Gastrostomy tube feeding in infancy	Always
Slowed or blocked flow of bile from liver	Always
Underdeveloped pancreas	Always
Vomiting	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Always
Low muscle tone in trunk	Always
Poor head control	Always
Scoliosis	Always
Spastic tetraplegia	Always
Low muscle tone	Very often (80–99%)
Appendicular spasticity	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Black feces	Always
Low blood cell count	Always
Low number of red blood cells or hemoglobin	Always
Low platelet count	Always
Subdural hemorrhage	Always
Vomiting blood	Always

Abnormality of the cardiovascular system

Trait	How often it is seen
Shock	Always
Strawberry mark	Always
Stroke	Always

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Always
Aspiration	Always
Breathing difficulties	Always

Abnormality of limbs

Trait	How often it is seen
Bilateral single transverse palmar creases	Always
Curvature of digit	Always

Abnormality of the ear

Trait	How often it is seen
Cupped ear	Always
Low-set ears	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Short stature	Very often (80–99%)

Laboratory abnormality

Trait	How often it is seen
Diabetes mellitus	Always
Fluid retention	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Increased calcium level in kidney	Always

Abnormality of the integument

Trait	How often it is seen
Blue discoloration of the skin	Sometimes (5–29%)

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 SPOUT1 and how often each is seen. Find out more at hpo.jax.org.

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