Trait

Dilated fourth ventricle

An abnormal dilatation of the fourth cerebral ventricle.

Also called: Enlarged fourth ventricle
Body system: Abnormality of the nervous system

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page$trait$name

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41 genes linked to Dilated fourth ventricle

Changes in these genes cause rare conditions in which Dilated fourth ventricle 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
ASNSasparagine synthetase (glutamine-hydrolyzing)	Always	In 1 condition
B9D2B9 domain containing 2	Always	In 1 condition
INTS11integrator complex subunit 11	Always	In 1 condition
MKS1MKS transition zone complex subunit 1	Always	In 1 condition
PUM1pumilio RNA binding family member 1	Always	In 1 condition
RNU12RNA, U12 small nuclear	Always	In 1 condition
LAMA1laminin subunit alpha 1	Very often (80–99%)	In 2 conditions
ATXN3ataxin 3	Often (30–79%)	In 4 conditions
C2CD3C2 domain containing 3 centriole elongation regulator	Often (30–79%)	In 1 condition
CLXNcalaxin	Often (30–79%)	In 1 condition
EXOC2exocyst complex component 2	Often (30–79%)	In 1 condition
EXOC3L2exocyst complex component 3 like 2	Often (30–79%)	In 1 condition
FKRPfukutin related protein	Often (30–79%)	In 1 condition
GMPPBGDP-mannose pyrophosphorylase B	Often (30–79%)	In 1 condition
GRM1glutamate metabotropic receptor 1	Often (30–79%)	In 1 condition
MAPKAPK5MAPK activated protein kinase 5	Often (30–79%)	In 1 condition
MEF2Cmyocyte enhancer factor 2C	Often (30–79%)	In 1 condition
MRE11MRE11 double strand break repair nuclease	Often (30–79%)	In 1 condition
PMM2phosphomannomutase 2	Often (30–79%)	In 1 condition
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	Often (30–79%)	In 1 condition
POMKprotein O-mannose kinase	Often (30–79%)	In 1 condition
POMT1protein O-mannosyltransferase 1	Often (30–79%)	In 1 condition
POMT2protein O-mannosyltransferase 2	Often (30–79%)	In 1 condition
RBMXRNA binding motif protein X-linked	Often (30–79%)	In 1 condition
TUBA1Atubulin alpha 1a	Often (30–79%)	In 1 condition
TUBBtubulin beta class I	Often (30–79%)	In 1 condition
WLSWnt ligand secretion mediator	Often (30–79%)	In 1 condition
ZIC1Zic family zinc finger 1	Often (30–79%)	In 1 condition
ZIC4Zic family zinc finger 4	Often (30–79%)	In 1 condition
PMPCApeptidase, mitochondrial processing subunit alpha	Sometimes (5–29%)	In 2 conditions
RAC1Rac family small GTPase 1	Sometimes (5–29%)	In 1 condition
TMEM67transmembrane protein 67	Sometimes (5–29%)	In 1 condition
USP9Xubiquitin specific peptidase 9 X-linked	Sometimes (5–29%)	In 1 condition
WARS2tryptophanyl tRNA synthetase 2, mitochondrial	Sometimes (5–29%)	In 1 condition
NIPA1NIPA magnesium transporter 1	Rarely (1–4%)	In 1 condition
NIPA2NIPA magnesium transporter 2	Rarely (1–4%)	In 1 condition
TUBG1tubulin gamma 1	Rarely (1–4%)	In 1 condition
ATXN1ataxin 1	Not recorded	In 1 condition
ATXN2ataxin 2	Not recorded	In 1 condition
CASKcalcium/calmodulin dependent serine protein kinase	Not recorded	In 1 condition

Show 1 more gene

Gene	How often it is seen	Conditions
COX20cytochrome c oxidase assembly factor COX20	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

Dandy-Walker malformation149 genes

Broader traits

Abnormal fourth ventricle morphology Ventriculomegaly

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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