Overview
Stimmler syndrome 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.
Abnormal tooth enamel
Very frequent (80-99%)HP:0000682
Aminoaciduria
Very frequent (80-99%)HP:0003355
Ataxia
Very frequent (80-99%)HP:0001251
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Decreased width of tooth
Very frequent (80-99%)HP:0000691
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Mental retardation, severe
Very frequent (80-99%)HP:0010864
NIDDM
Very frequent (80-99%)HP:0005978
Related Conditions
Enamel hypoplasia(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Diabetes mellitus(parent)
Recessive hereditary disorder (autosomal)(parent)
Small stature(parent)
Disorder of amino acid and organic acid metabolism(parent)
Hereditary disorder of endocrine system(parent)
Congenital microcephalus(parent)
Amelogenesis imperfecta(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 733072002
- UMLS CUI
- C1859965
- Fully Specified Name
- Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 9
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.