Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Absence of corpus callosum
Always present (100%)HP:0001274
Hearing impairment
Always present (100%)HP:0000365
Non-acidotic proximal tubulopathy
Always present (100%)HP:0005574
Severe myopia
Always present (100%)HP:0011003
Broad, upturned nose
Very frequent (80-99%)HP:0000455
Crease in skin under the eye
Very frequent (80-99%)HP:0100876
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Flat nasal bridge
Very frequent (80-99%)HP:0005280
Hairline point
Very frequent (80-99%)HP:0000349
Hypoplastic or absent corpus callosum
Very frequent (80-99%)HP:0007370
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Near sighted
Very frequent (80-99%)HP:0000545
Nonprogressive mental retardation
Very frequent (80-99%)HP:0001249
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Proteinuria
Very frequent (80-99%)HP:0000093
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Small nose
Very frequent (80-99%)HP:0003196
Wider-than-typical soft spot of skull
Very frequent (80-99%)HP:0000260
Diaphragmatic hernia
Frequent (30-79%)HP:0000776
Eventration of the diaphragm
Frequent (30-79%)HP:0009110
Increased size of skull
Frequent (30-79%)HP:0000256
Increased width of the forehead
Frequent (30-79%)HP:0000337
Low-set ears
Frequent (30-79%)HP:0000369
Omphalocoele
Frequent (30-79%)HP:0001539
Partial or complete agenesis of corpus callosum
Frequent (30-79%)HP:0001338
Progressive visual loss
Frequent (30-79%)HP:0000529
Prominent eyes
Frequent (30-79%)HP:0000520
Retinal detachment
Frequent (30-79%)HP:0000541
Umbilical hernia
Frequent (30-79%)HP:0001537
Related Conditions
Quick Facts
- SNOMED CT
- 702418009
- UMLS CUI
- C1857277
- Fully Specified Name
- Diaphragmatic hernia-exomphalos-hypertelorism 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.