Genes associated with “polymicrogyria”
How are genes scored? (0–100 composite)
Strong Candidates
15 genesmegalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
developmental and epileptic encephalopathy 99
fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
Joubert syndrome 32
Consider
60 genesCEBALID syndrome
CEDNIK syndrome
euchromatic histone lysine methyltransferase 1
occipital pachygyria and polymicrogyria
CK syndrome
complex cortical dysplasia with other brain malformations 1
developmental and epileptic encephalopathy, 62
Baller-Gerold syndrome
Chudley-McCullough syndrome
proteasome 26S subunit, ATPase 3
NUS1 dehydrodolichyl diphosphate synthase subunit
OFD1 centriole and centriolar satellite protein
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POLYMICROGYRIA AND SEIZURES; IDDPMGS
POLYMICROGYRIA WITH OR WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME; PMGEDSV
microcephaly 2, primary, autosomal recessive, with or without cortical malformations
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
wolframin ER transmembrane glycoprotein
aristaless related homeobox
carnitine palmitoyl transferase II deficiency, neonatal form
DEAD-box helicase 23
developmental delay with or without dysmorphic facies and autism
neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
neurodevelopmental disorder with or without variable brain abnormalities; NEDBA
laminin subunit alpha 2
Adams-Oliver syndrome 2
porencephaly 2
d-bifunctional protein deficiency
intellectual disability, autosomal dominant 13
phenylalanine hydroxylase
intellectual disability, X-linked 103
band heterotopia of brain
SET domain containing 5
DCC netrin 1 receptor
Goldberg-Shprintzen syndrome
autosomal recessive cutis laxa type 2A
peroxisome biogenesis disorder 1A (Zellweger)
cortical dysplasia, complex, with other brain malformations 11
Joubert syndrome 3
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
periventricular nodular heterotopia 9
Possible
564 genes — click to expand
Warburg micro syndrome 2
Nager acrofacial dysostosis
aniridia 1
X-linked intellectual disability, Cabezas type
severe neonatal-onset encephalopathy with microcephaly
multiple mitochondrial dysfunctions syndrome 3
Knobloch syndrome 1
Warburg micro syndrome 1
peroxisome biogenesis disorder 7A (Zellweger)
Warburg micro syndrome 3
peroxisome biogenesis disorder 13A (Zellweger)
Joubert syndrome 24
intellectual disability, autosomal recessive 57
Curry-Jones syndrome
Adams-Oliver syndrome 1
intellectual disability, autosomal dominant 48
protocadherin 19
intellectual disability, autosomal dominant 42
sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
diaphanospondylodysostosis
neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
developmental and epileptic encephalopathy, 8
macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
SRD5A3-congenital disorder of glycosylation
orofaciodigital syndrome type 6
developmental and epileptic encephalopathy 111
Long-Olsen-Distelmaier syndrome
sodium voltage-gated channel alpha subunit 1
aniridia 1
potassium voltage-gated channel subfamily Q member 2
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
peroxisome biogenesis disorder 5A (Zellweger)
peroxisome biogenesis disorder 11A (Zellweger)
orofaciodigital syndrome type 14
Joubert syndrome 30
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
chromosome 15q24 deletion syndrome
PEHO-like syndrome
Warburg micro syndrome 4
laminin subunit alpha 5
microcephalic osteodysplastic primordial dwarfism type I
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1; CDCBM1
KNOBLOCH SYNDROME 1; KNO1
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4; MDDGA4
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2; MPPH2
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3; MPPH3
combined oxidative phosphorylation defect type 4
congenital hypotonia, epilepsy, developmental delay, and digital anomalies
ectonucleoside triphosphate diphosphohydrolase 1
mitochondrial DNA depletion syndrome 13
proximal myopathy with extrapyramidal signs
cerebrooculofacioskeletal syndrome 4
Galloway-Mowat syndrome 4
short-rib thoracic dysplasia 14 with polydactyly
congenital disorder of deglycosylation 2
potassium voltage-gated channel subfamily C member 2
gamma-aminobutyric acid type A receptor subunit gamma2
gamma-aminobutyric acid type A receptor subunit alpha1
myosin heavy chain 10
BLOC-1 related complex subunit 5
potassium sodium-activated channel subfamily T member 1
spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
spondyloepimetaphyseal dysplasia, Genevieve type
periventricular nodular heterotopia 7
Galloway-Mowat syndrome 2, X-linked
lissencephaly 8
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.