Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Full upper lip
Always present (100%)HP:0000215
Low intelligence
Always present (100%)HP:0001249
No development of motor milestones
Always present (100%)HP:0001270
Abnormal upper lip morphology
Very frequent (80-99%)HP:0000177
Cerebral cortex atrophy
Very frequent (80-99%)HP:0002120
Decreased projection of mandible
Very frequent (80-99%)HP:0000347
Electroencephalogram abnormal
Very frequent (80-99%)HP:0002353
Fewer or absent grooves in brain
Very frequent (80-99%)HP:0001339
Frontal protuberance
Very frequent (80-99%)HP:0002007
Growth deficiency
Very frequent (80-99%)HP:0001510
High forehead
Very frequent (80-99%)HP:0000348
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431
Nasal hypoplasia
Very frequent (80-99%)HP:0003196
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Abnormality of the cardiovascular system
Frequent (30-79%)HP:0001626
Decreased size of cranium
Frequent (30-79%)HP:0000252
Deep palmar creases
Frequent (30-79%)HP:0006191
Hydramnios
Frequent (30-79%)HP:0001561
Large cavum septi pellucidi
Frequent (30-79%)HP:0002389
Low-set ears
Frequent (30-79%)HP:0000369
Midline brain calcifications
Frequent (30-79%)HP:0007045
Small for gestational age infant
Frequent (30-79%)HP:0001511
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Ataxia
Occasional (5-29%)HP:0001251
Contractures of the hands
Occasional (5-29%)HP:0009473
Curvature of little finger
Occasional (5-29%)HP:0004209
Hypoplasia of corpus callosum
Occasional (5-29%)HP:0002079
Kidney disease
Occasional (5-29%)HP:0000112
Sacral dimple
Occasional (5-29%)HP:0000960
Related Conditions
Quick Facts
- SNOMED CT
- 253148005
- UMLS CUI
- C0265219
- Fully Specified Name
- Miller Dieker 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.