Overview
FRAXE intellectual disability 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.
Aggression
Frequent (30-79%)HP:0000718
ASD
Frequent (30-79%)HP:0000729
Clumsiness
Frequent (30-79%)HP:0002312
Decreased body height
Frequent (30-79%)HP:0004322
Husky voice
Frequent (30-79%)HP:0001609
Large helix
Frequent (30-79%)HP:0009904
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Palpebronasal fold
Frequent (30-79%)HP:0000286
Prominent lips
Frequent (30-79%)HP:0012471
Psychomotor agitation
Frequent (30-79%)HP:0000713
Recurrent hand flapping
Frequent (30-79%)HP:0100023
Small for gestational age infant
Frequent (30-79%)HP:0001511
Specific learning disability
Frequent (30-79%)HP:0001328
Speech difficulties
Frequent (30-79%)HP:0000750
Decreased size of cranium
Occasional (5-29%)HP:0000252
Foetal distress
Occasional (5-29%)HP:0025116
Incoordination
Occasional (5-29%)HP:0002311
Large head
Occasional (5-29%)HP:0000256
Long upper lip
Occasional (5-29%)HP:0011341
Permanent curving of the pinkie finger
Occasional (5-29%)HP:0004209
Stereotypical body rocking
Occasional (5-29%)HP:0012172
Convex bridge of nose
HP:0000426
hyperkinetic disorder
HP:0000752
Impulsivity
HP:0100710
OCD
HP:0000722
Quick Facts
- SNOMED CT
- 716709002
- UMLS CUI
- C0751157
- Fully Specified Name
- FRAXE intellectual disability syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
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.