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Microlissencephaly

disorder
SNOMED 1003374009CUI C1956147

Overview

Microlissencephaly 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.

Decreased size of cranium
Always present (100%)HP:0000252
Bilateral tonic-clonic seizure with generalized onset
Very frequent (80-99%)HP:0025190
Delayed language development
Very frequent (80-99%)HP:0000750
Hypoplasia of corpus callosum
Very frequent (80-99%)HP:0002079
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Neuronal loss in the cerebral cortex
Very frequent (80-99%)HP:0007190
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
White matter dysmyelination/demyelination
Very frequent (80-99%)HP:0007266
Cerebral cortex atrophy
Frequent (30-79%)HP:0002120
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Distortion of face
Frequent (30-79%)HP:0001999
Fewer or absent grooves in brain
Frequent (30-79%)HP:0001339
Increased reflexes
Frequent (30-79%)HP:0001347
Spasticity and rigidity of muscles
Frequent (30-79%)HP:0001276
Thick cerebral cortex
Frequent (30-79%)HP:0006891
Atrophic cerebellum
Occasional (5-29%)HP:0001272
Cerebral pachygyria
Occasional (5-29%)HP:0001302
Cortical gyral simplification
Occasional (5-29%)HP:0009879
More grooves in brain
Occasional (5-29%)HP:0002126
Periventricular grey matter heterotopia
Occasional (5-29%)HP:0007165
Pneumonia
Occasional (5-29%)HP:0002090
Subcortical heterotopia
Occasional (5-29%)HP:0032391

Quick Facts

SNOMED CT
1003374009
UMLS CUI
C1956147
Fully Specified Name
Microlissencephaly (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
22
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.