Overview
Lissencephaly is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Research Evidence
Peer-reviewed studies linked via MeSH term "Lissencephalies" from the MEDLINE/PubMed database.
Sort:
Neuropathology of genetically defined malformations of cortical development-A systematic literature review.
[object Object], [object Object], [object Object] · Neuropathol Appl Neurobiol · 2021
Diagnostic work-up in malformations of cortical development.
[object Object], [object Object], [object Object] · Dev Med Child Neurol · 2024
PMID: 38394064Review
Tubulin mutations in human neurodevelopmental disorders.
[object Object], [object Object], [object Object] et al. · Semin Cell Dev Biol · 2023
PMID: 35915025Review
Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome.
[object Object], [object Object], [object Object] et al. · Am J Med Genet A · 2023
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
[object Object], [object Object], [object Object] et al. · Genet Med · 2023
PMID: 36999555Review
Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature.
[object Object], [object Object], [object Object] et al. · Am J Med Genet A · 2023
PMID: 37621218Review
Lissencephaly: Update on diagnostics and clinical management.
[object Object], [object Object], [object Object] · Eur J Paediatr Neurol · 2021
PMID: 34731701Review
The Names of Things: The 2018 Bernard Sachs Lecture.
[object Object] · Pediatr Neurol · 2021
PMID: 34330614Review
Cerebral organoids to unravel the mechanisms underlying malformations of human cortical development.
[object Object], [object Object], [object Object] · Semin Cell Dev Biol · 2021
PMID: 32741653Review
A journey through formation and malformations of the neo-cortex.
[object Object], [object Object] · Childs Nerv Syst · 2020
PMID: 31776716Review
Search all PubMed articles for Lissencephaly
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Delayed motor milestones
Always present (100%)HP:0001270
Full upper lip
Always present (100%)HP:0000215
Mental deficiency
Always present (100%)HP:0001249
Abnormal upper lip morphology
Very frequent (80-99%)HP:0000177
Broad flat nasal bridge
Very frequent (80-99%)HP:0000431
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
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
Cardiovascular disease
Frequent (30-79%)HP:0001626
Decreased size of cranium
Frequent (30-79%)HP:0000252
Deep palmar creases
Frequent (30-79%)HP:0006191
Increased amniotic fluid index
Frequent (30-79%)HP:0001561
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
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
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 damage
Occasional (5-29%)HP:0000112
Sacral dimple
Occasional (5-29%)HP:0000960
Related Conditions
Type 1 lissencephaly(child)
Type 2 lissencephaly(child)
Lissencephaly co-occurrent with congenital cerebellar hypoplasia(child)
Craniotelencephalic dysplasia(child)
X-linked lissencephaly with abnormal genitalia syndrome(child)
Lissencephaly type 3 metacarpal bone dysplasia syndrome(child)
Lissencephaly due to tubulin alpha 1A mutation(child)
Microlissencephaly micromelia syndrome(child)
Type 3 lissencephaly(child)
Microlissencephaly(child)
Disorder of neuronal migration and differentiation(parent)
Congenital anomaly of brain(parent)
Quick Facts
- SNOMED CT
- 204036008
- UMLS CUI
- C0266463
- Fully Specified Name
- Lissencephaly (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.