Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Decreased volume of upper lip
Very frequent (80-99%)HP:0000219
Gray matter heterotopias
Very frequent (80-99%)HP:0002282
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Mongoloid slant
Very frequent (80-99%)HP:0000582
Poor growth
Very frequent (80-99%)HP:0001510
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Sloping forehead
Very frequent (80-99%)HP:0000340
Abnormal compact bone morphology
Frequent (30-79%)HP:0003103
Absence of corpus callosum
Frequent (30-79%)HP:0001274
Cerebral pachygyria
Frequent (30-79%)HP:0001302
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Increased reflexes
Frequent (30-79%)HP:0001347
Single kidney
Frequent (30-79%)HP:0000122
Underdeveloped frontal lobe
Frequent (30-79%)HP:0007333
VUR
Frequent (30-79%)HP:0000076
Quick Facts
- SNOMED CT
- 715981004
- UMLS CUI
- C3711387
- Fully Specified Name
- Autosomal recessive primary microcephaly (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 17
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.