Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Feeding difficulties
Always present (100%)HP:0011968
Undergrowth
Always present (100%)HP:0001508
Broad alveolar processes of jaw
Very frequent (80-99%)HP:0000187
Central hypotonia
Very frequent (80-99%)HP:0001252
Facial hemangiomata
Very frequent (80-99%)HP:0000329
Flexion contractures
Very frequent (80-99%)HP:0001371
Near sighted
Very frequent (80-99%)HP:0000545
Neurodevelopmental delay
Very frequent (80-99%)HP:0012758
Absence of corpus callosum
Frequent (30-79%)HP:0001274
Apnea
Frequent (30-79%)HP:0002104
Atony of facial musculature
Frequent (30-79%)HP:0000297
Bradycardia
Frequent (30-79%)HP:0001662
Congenital joint contractures
Frequent (30-79%)HP:0002803
Decreased body height
Frequent (30-79%)HP:0004322
Decreased size of cranium
Frequent (30-79%)HP:0000252
Deep palmar creases
Frequent (30-79%)HP:0006191
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
Fixed elbow flexion
Frequent (30-79%)HP:0006471
Food intolerance
Frequent (30-79%)HP:0012537
Happy demeanour
Frequent (30-79%)HP:0040082
Hypoplasia of corpus callosum
Frequent (30-79%)HP:0002079
Inability to walk
Frequent (30-79%)HP:0002540
Increased hair growth on body
Frequent (30-79%)HP:0000998
Intellectual disability, profound
Frequent (30-79%)HP:0002187
Limitation of joint mobility
Frequent (30-79%)HP:0001376
Low anterior hairline
Frequent (30-79%)HP:0000294
Low-set ears
Frequent (30-79%)HP:0000369
Lower limb hypertonia
Frequent (30-79%)HP:0006895
Mental retardation, severe
Frequent (30-79%)HP:0010864
Mongoloid slant
Frequent (30-79%)HP:0000582
Quick Facts
- SNOMED CT
- 720565000
- UMLS CUI
- C0796232
- Fully Specified Name
- Bohring Opitz 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.