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Trait
Fewer or absent grooves in brain
Clinical name: Lissencephaly
A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
Summary
- Body system
- Abnormality of the nervous system
Fewer or absent grooves in brainHP:0001339
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Read the genes linked to Fewer or absent grooves in brain, and the rest of your genome, with one test.
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Get my Genome Test68 genes linked to Fewer or absent grooves in brain
Changes in these genes cause rare conditions in which Fewer or absent grooves in brain is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ACTG1actin gamma 1 | Always | In 2 conditions |
| APC2APC regulator of Wnt signaling pathway 2 | Always | In 1 condition |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Always | In 1 condition |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Always | In 1 condition |
| CDK5cyclin dependent kinase 5 | Always | In 1 condition |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Always | In 1 condition |
| FKRPfukutin related protein | Always | In 2 conditions |
| MACF1microtubule actin crosslinking factor 1 | Always | In 1 condition |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Always | In 1 condition |
| RELNreelin | Always | In 1 condition |
| SNAPINSNAP associated protein | Always | In 1 condition |
| TMX2thioredoxin related transmembrane protein 2 | Always | In 1 condition |
| TP73tumor protein p73 | Always | In 1 condition |
| ACTBactin beta | Very often (80–99%) | In 2 conditions |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Very often (80–99%) | In 1 condition |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Very often (80–99%) | In 1 condition |
| COL4A1collagen type IV alpha 1 chain | Very often (80–99%) | In 1 condition |
| CRPPACDP-L-ribitol pyrophosphorylase A | Very often (80–99%) | In 2 conditions |
| DAG1dystroglycan 1 | Very often (80–99%) | In 1 condition |
| FKTNfukutin | Very often (80–99%) | In 2 conditions |
| HIC1HIC ZBTB transcriptional repressor 1 | Very often (80–99%) | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Very often (80–99%) | In 1 condition |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Very often (80–99%) | In 2 conditions |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Very often (80–99%) | In 1 condition |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Very often (80–99%) | In 1 condition |
| POMKprotein O-mannose kinase | Very often (80–99%) | In 2 conditions |
| POMT1protein O-mannosyltransferase 1 | Very often (80–99%) | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Very often (80–99%) | In 1 condition |
| RAB18RAB18, member RAS oncogene family | Very often (80–99%) | In 1 condition |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Very often (80–99%) | In 1 condition |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Very often (80–99%) | In 1 condition |
| RXYLT1ribitol xylosyltransferase 1 | Very often (80–99%) | In 1 condition |
| TBC1D20TBC1 domain family member 20 | Very often (80–99%) | In 1 condition |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Very often (80–99%) | In 1 condition |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Often (30–79%) | In 1 condition |
| ATP6V1AATPase H+ transporting V1 subunit A | Often (30–79%) | In 1 condition |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Often (30–79%) | In 1 condition |
| CTU2cytosolic thiouridylase subunit 2 | Often (30–79%) | In 1 condition |
| FHfumarate hydratase | Often (30–79%) | In 1 condition |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Often (30–79%) | In 1 condition |
Show 28 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| NDE1nudE neurodevelopment protein 1 | Often (30–79%) | In 1 condition |
| PSAT1phosphoserine aminotransferase 1 | Often (30–79%) | In 2 conditions |
| SLC25A19solute carrier family 25 member 19 | Often (30–79%) | In 1 condition |
| TUBA1Atubulin alpha 1a | Often (30–79%) | In 2 conditions |
| TUBB3tubulin beta 3 class III | Often (30–79%) | In 2 conditions |
| DHCR2424-dehydrocholesterol reductase | Sometimes (5–29%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Sometimes (5–29%) | In 1 condition |
| LAMA2laminin subunit alpha 2 | Sometimes (5–29%) | In 1 condition |
| MEG3maternally expressed 3 | Sometimes (5–29%) | In 1 condition |
| PIDD1p53-induced death domain protein 1 | Sometimes (5–29%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Sometimes (5–29%) | In 1 condition |
| RTTNrotatin | Sometimes (5–29%) | In 2 conditions |
| STSsteroid sulfatase | Sometimes (5–29%) | In 1 condition |
| VIPAS39VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Sometimes (5–29%) | In 1 condition |
| VPS33BVPS33B late endosome and lysosome associated | Sometimes (5–29%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Rarely (1–4%) | In 1 condition |
| TUBB2Btubulin beta 2B class IIb | Rarely (1–4%) | In 2 conditions |
| ARXaristaless related homeobox | Not recorded | In 1 condition |
| BLTP1bridge-like lipid transfer protein family member 1 | Not recorded | In 1 condition |
| CRADDCARD and death domain containing adaptor protein | Not recorded | In 1 condition |
| DCXdoublecortin | Not recorded | In 1 condition |
| KATNB1katanin regulatory subunit B1 | Not recorded | In 1 condition |
| KIF2Akinesin family member 2A | Not recorded | In 1 condition |
| OCLNoccludin | Not recorded | In 1 condition |
| OSGEPO-sialoglycoprotein endopeptidase | Not recorded | In 1 condition |
| PEX13peroxisomal biogenesis factor 13 | Not recorded | In 1 condition |
| PHGDHphosphoglycerate dehydrogenase | Not recorded | In 1 condition |
| WDR62WD repeat domain 62 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Narrower traits
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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