Overview
Pseudoaminopterin 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 temporal bone morphology
Frequent (30-79%)HP:0009911
Blepharophimosis
Frequent (30-79%)HP:0000581
Decreased body height
Frequent (30-79%)HP:0004322
Dull intelligence
Frequent (30-79%)HP:0001249
Dysmelia
Frequent (30-79%)HP:0040064
Frontal upsweep of hair
Frequent (30-79%)HP:0002236
High arched palate
Frequent (30-79%)HP:0000218
Increased distance between eyes
Frequent (30-79%)HP:0000316
Limited elbow movement
Frequent (30-79%)HP:0002996
Patchy reduction of bone mineral density
Frequent (30-79%)HP:0010657
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Prominent nasal root
Frequent (30-79%)HP:0000426
Protruding eyes
Frequent (30-79%)HP:0000520
Absent ear lobes
Occasional (5-29%)HP:0000387
Absent spleen
Occasional (5-29%)HP:0001746
Brachydactyly
Occasional (5-29%)HP:0001156
Cleft lip, cleft palate
Occasional (5-29%)HP:0000202
Clinodactyly of the 4th finger
Occasional (5-29%)HP:0040025
Clubbing of fingers
Occasional (5-29%)HP:0100759
Curvature of the little toe
Occasional (5-29%)HP:0001864
Decreased height of philtrum
Occasional (5-29%)HP:0000322
Eye muscle paralysis
Occasional (5-29%)HP:0000602
Fallen arches
Occasional (5-29%)HP:0001763
Fatigable weakness of limb muscles
Occasional (5-29%)HP:0003473
Fusion of wrist bones
Occasional (5-29%)HP:0005048
Horseshoe kidney
Occasional (5-29%)HP:0000085
Hypernasal voice
Occasional (5-29%)HP:0001611
Hypoplasia of the antihelix
Occasional (5-29%)HP:0009739
Hypoplastic fourth metacarpal
Occasional (5-29%)HP:0010044
Hypotonia, early
Occasional (5-29%)HP:0008947
Quick Facts
- SNOMED CT
- 715867000
- UMLS CUI
- C0795939
- Fully Specified Name
- Pseudoaminopterin syndrome (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.