Traits

Traits linked to PSAT1

phosphoserine aminotransferase 1

The Human Phenotype Ontology links 67 traits to PSAT1, by body system: features seen in people with one of the gene's rare conditions.

PSAT1

Abnormality of the nervous system

Trait	How often it is seen
Cerebellar vermis hypoplasia	Always
Global developmental delay	Always
Inappropriate crying	Very often (80–99%)
Profound global developmental delay	Very often (80–99%)
Cerebral white matter hypoplasia	Often (30–79%)
Epilepsy	Often (30–79%)
Fewer or absent grooves in brain	Often (30–79%)
Increased reflexes	Often (30–79%)
Jerking	Often (30–79%)
Small cerebellum	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Ventriculomegaly	Often (30–79%)
Delayed myelination	Sometimes (5–29%)
EEG with focal sharp waves	Sometimes (5–29%)
EEG with polyspike wave complexes	Sometimes (5–29%)
Epileptic spasm	Sometimes (5–29%)
Lateral ventricle dilatation	Sometimes (5–29%)
Simplified gyral pattern	Sometimes (5–29%)
Split spine	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always
Little lower jaw	Always
Sloping forehead	Always
Short neck	Very often (80–99%)
Small head present at birth	Very often (80–99%)
Absent eyelids	Often (30–79%)
Thickened skin folds of neck	Often (30–79%)
Cleft palate	Sometimes (5–29%)
Deformity of the skull	Sometimes (5–29%)
Depressed nasal bridge	Sometimes (5–29%)
High palate	Sometimes (5–29%)
Development of small head that was not present at birth	Not recorded
Flat nose	Not recorded

Abnormality of limbs

Trait	How often it is seen
Rocker bottom foot	Always
Fused toes	Often (30–79%)
Ankle flexion contracture	Sometimes (5–29%)
Club foot on both sides	Sometimes (5–29%)
Finger syndactyly	Sometimes (5–29%)
Inability to straighten knee	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Decreased CSF glycine concentration	Always
Decreased CSF serine concentration	Always
Low blood glycine levels	Always
Low blood serine levels	Always
Elevated blood glycine levels	Very often (80–99%)
Fluid retention	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties in infancy	Very often (80–99%)
Feeding difficulties	Often (30–79%)
Belly sticks out	Sometimes (5–29%)
Gastrostomy tube feeding in infancy	Sometimes (5–29%)
Nasogastric tube feeding	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone in trunk	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)
Limb contractures	Sometimes (5–29%)
Scoliosis	Sometimes (5–29%)
Spastic tetraparesis	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Often (30–79%)
Wide-set eyes	Often (30–79%)
Clouding of the lens of the eye	Sometimes (5–29%)
Paroxysmal involuntary eye movements	Sometimes (5–29%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Less than 10 fetal movements in 12 hours	Always
High levels of amniotic fluid	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Ichthyosis	Always
Cyanotic episode	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Always
Faltering weight in infancy	Very often (80–99%)

Abnormality of the breast

Trait	How often it is seen
Wide-spaced nipples	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Very often (80–99%)

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	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 PSAT1 and how often each is seen. Find out more at hpo.jax.org.

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