Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
CVI
Always present (100%)HP:0100704
Foveal hypoplasia
Always present (100%)HP:0007750
Head circumference small for gestational age
Always present (100%)HP:0011451
Jerking
Always present (100%)HP:0001336
Lacticacidosis
Always present (100%)HP:0003128
Partial or complete agenesis of corpus callosum
Always present (100%)HP:0001338
Poor sucking
Always present (100%)HP:0002033
Poor weight gain
Always present (100%)HP:0001508
Small anterior fontanelle
Always present (100%)HP:0000237
Truncal hypotonia
Always present (100%)HP:0008936
Cerebellar vermis hypoplasia
Very frequent (80-99%)HP:0001320
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Feeding difficulties
Very frequent (80-99%)HP:0011968
Irritability
Very frequent (80-99%)HP:0000737
Metabolic acidosis
Very frequent (80-99%)HP:0001942
Optic atrophy
Very frequent (80-99%)HP:0000648
Organic aciduria
Very frequent (80-99%)HP:0001992
Severe psychomotor retardation
Very frequent (80-99%)HP:0011344
Sloping forehead
Very frequent (80-99%)HP:0000340
Absence of corpus callosum
Frequent (30-79%)HP:0001274
Appendicular hypertonia
Frequent (30-79%)HP:0002509
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Fewer or absent grooves in brain
Frequent (30-79%)HP:0001339
Muscular hypotonia
Frequent (30-79%)HP:0001252
Osteoporosis
Frequent (30-79%)HP:0000939
Split spine
Frequent (30-79%)HP:0002414
Temperature instability
Frequent (30-79%)HP:0005968
Cleft soft palate
Occasional (5-29%)HP:0000185
Decreased fetal movement
Occasional (5-29%)HP:0001558
Enlarged liver
Occasional (5-29%)HP:0002240
Quick Facts
- SNOMED CT
- 702437000
- UMLS CUI
- C1846648
- Fully Specified Name
- Amish lethal microcephaly (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.