Genes associated with “lissencephaly”
Some sources returned errors (2)
omim: Error: OMIM search: 429
omimClinSyn: Error: OMIM CS: 429
How are genes scored? (0–100 composite)
Strong Candidates
24 genesplatelet activating factor acetylhydrolase 1b regulatory subunit 1
lissencephaly due to LIS1 mutation
cobblestone lissencephaly without muscular or ocular involvement
complex cortical dysplasia with other brain malformations 4
cortical dysplasia, complex, with other brain malformations 10
ciliary dyskinesia, primary, 47, and lissencephaly
lissencephaly 8
X-linked lissencephaly with abnormal genitalia
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Baraitser-winter syndrome 2
FOXG1 disorder
complex cortical dysplasia with other brain malformations 7
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
lissencephaly 6 with microcephaly
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Consider
93 genesassembly factor for spindle microtubules
CK syndrome
intellectual disability, autosomal recessive 34
complex cortical dysplasia with other brain malformations 1
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Yunis-Varon syndrome
microcephalic primordial dwarfism due to RTTN deficiency
intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly
adhesion G protein-coupled receptor G1
CEDNIK syndrome
occipital pachygyria and polymicrogyria
cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
autosomal recessive cutis laxa type 2A
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
band heterotopia of brain
Adams-Oliver syndrome 1
Okur-Chung neurodevelopmental syndrome
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
Marshall-Smith syndrome
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Neu-Laxova syndrome 2
syndromic X-linked intellectual disability Najm type
intellectual developmental disorder with autism and speech delay
nibrin
Joubert syndrome 24
peroxisome biogenesis disorder 5A (Zellweger)
Possible
102 genes — click to expand
cortical dysplasia, complex, with other brain malformations 9
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
Baraitser-Winter syndrome 1
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
microcephaly 2, primary, autosomal recessive, with or without cortical malformations
multiple acyl-CoA dehydrogenase deficiency
microcephalic osteodysplastic primordial dwarfism type I
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
malonic aciduria
multiple acyl-CoA dehydrogenase deficiency
combined oxidative phosphorylation defect type 11
Neu-Laxova syndrome 1
severe combined immunodeficiency due to DNA-PKcs deficiency
microcephaly and chorioretinopathy 1
multiple acyl-CoA dehydrogenase deficiency
arthrogryposis, renal dysfunction, and cholestasis 2
van Maldergem syndrome 2
genitopatellar syndrome
peroxisome biogenesis disorder 6A (Zellweger)
peroxisome biogenesis disorder 11A (Zellweger)
complex cortical dysplasia with other brain malformations 3
Goldberg-Shprintzen syndrome
short-rib thoracic dysplasia 6 with or without polydactyly
arthrogryposis, renal dysfunction, and cholestasis 1
PEHO-like syndrome
microcephaly 26, primary, autosomal dominant
LIM homeobox transcription factor 1 beta
multiple mitochondrial dysfunctions syndrome 5
combined oxidative phosphorylation deficiency 39
van Maldergem syndrome 1
exosome component 3
Galloway-Mowat syndrome 5
psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
cortical dysplasia, complex, with other brain malformations 12
microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
microcephaly 20, primary, autosomal recessive
tubulin alpha 3e
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
spondylometaphyseal dysplasia, Sedaghatian type
myosin heavy chain 10
Galloway-Mowat syndrome 1
Hennekam lymphangiectasia-lymphedema syndrome 1
peroxidasin
SHH signaling and ciliogenesis regulator SDCCAG8
mitogen-activated protein kinase 8 interacting protein 3
glyceronephosphate O-acyltransferase
Joubert syndrome 13
Galloway-Mowat syndrome 3
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.