Overview
Microphthalmia with brain atrophy syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormally small eyeball on both sides
Very frequent (80-99%)HP:0007633
Blindness
Very frequent (80-99%)HP:0000618
Atrophy of the corpus callosum
Frequent (30-79%)HP:0007371
Brainstem atrophy
Frequent (30-79%)HP:0007366
Decreased size of cranium
Frequent (30-79%)HP:0000252
Diffuse cerebral atrophy
Frequent (30-79%)HP:0002506
Diffuse demyelination of the cerebral white matter
Frequent (30-79%)HP:0007162
Dilatation of lateral cerebral ventricles
Frequent (30-79%)HP:0006956
Frequently cries for no reason
Frequent (30-79%)HP:0030215
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Loss of acquired milestones
Frequent (30-79%)HP:0002376
Multifocal onset seizures
Frequent (30-79%)HP:0031165
Vomiting
Frequent (30-79%)HP:0002013
Abnormal pons morphology
Occasional (5-29%)HP:0007361
Generalised-onset seizure
Occasional (5-29%)HP:0002197
Generalized myoclonic seizure
Occasional (5-29%)HP:0002123
Localized hyperkinetic seizure
Occasional (5-29%)HP:0011174
Tongue thrusting
Occasional (5-29%)HP:0100703
Unresponsive wakefulness
Occasional (5-29%)HP:0031358
Vermian atrophy
Occasional (5-29%)HP:0006855
Related Conditions
Microphthalmos(parent)
Recessive hereditary disorder (autosomal)(parent)
Hereditary disorder of the visual system(parent)
Degenerative brain disorder(parent)
Hereditary degenerative disease of central nervous system(parent)
Developmental hereditary disorder(parent)
Chronic musculoskeletal disorder(parent)
Seizure disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Severe mental retardation (I.Q. 20-34)(parent)
Disease of skeletal muscle(parent)
Chronic brain syndrome(parent)
Congenital blindness(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 720010009
- UMLS CUI
- C1970013
- Fully Specified Name
- Microphthalmia with brain atrophy syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 20
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.