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Phosphoserine aminotransferase deficiency

disorder
SNOMED 718603002CUI C1970253

Overview

Phosphoserine aminotransferase deficiency is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Cognitive delay
Always present (100%)HP:0001263
Glycine low in CSF
Always present (100%)HP:0034390
Hypoglycinemia
Always present (100%)HP:0012277
Low serine levels in cerebrospinal fluid
Always present (100%)HP:0500228
Failure to thrive in first year of life
Very frequent (80-99%)HP:0001531
Feeding difficulties in infancy
Very frequent (80-99%)HP:0008872
Frequently cries for no reason
Very frequent (80-99%)HP:0030215
Head circumference small for gestational age
Very frequent (80-99%)HP:0011451
Hyperglycinemia
Very frequent (80-99%)HP:0002154
Hyposerinemia
Very frequent (80-99%)HP:0012279
Profound global developmental delay
Very frequent (80-99%)HP:0012736
Apnea
Frequent (30-79%)HP:0002104
Epilepsy
Frequent (30-79%)HP:0001250
Feeding difficulties
Frequent (30-79%)HP:0011968
Hypoplasia of corpus callosum
Frequent (30-79%)HP:0002079
Increased reflexes
Frequent (30-79%)HP:0001347
Paucity of cerebral white matter
Frequent (30-79%)HP:0012430
Small for gestational age infant
Frequent (30-79%)HP:0001511
Spasticity and rigidity of muscles
Frequent (30-79%)HP:0001276
Thickened skin folds of neck
Frequent (30-79%)HP:0000474
Truncal hypotonia
Frequent (30-79%)HP:0008936
Abnormal eye movements, paroxysmal
Occasional (5-29%)HP:0007704
Ankle flexion contracture
Occasional (5-29%)HP:0006466
Bilateral clubfeet
Occasional (5-29%)HP:0001776
Cerebellar vermis hypoplasia
Occasional (5-29%)HP:0001320
Cortical gyral simplification
Occasional (5-29%)HP:0009879
Craniosyostosis
Occasional (5-29%)HP:0001363
Cyanotic episode
Occasional (5-29%)HP:0200048
Decreased projection of mandible
Occasional (5-29%)HP:0000347
Delayed myelination
Occasional (5-29%)HP:0012448

Related Conditions

Autosomal dominant hereditary disorder(parent)
Deficiency of transaminase(parent)
Disorder of serine metabolism(parent)

Quick Facts

SNOMED CT
718603002
UMLS CUI
C1970253
Fully Specified Name
Deficiency of phosphoserine aminotransferase (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.