Trait

Dysplastic corpus callosum

Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.

HPO HP:0006989

Also called: Dysgenesis of corpus callosum, Dysplasia of corpus callosum
Body system: Abnormality of the nervous system

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47 genes linked to Dysplastic corpus callosum

Changes in these genes cause rare conditions in which Dysplastic corpus callosum 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
ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2	Always	In 1 condition
NDUFB7NADH:ubiquinone oxidoreductase subunit B7	Always	In 1 condition
PIGHphosphatidylinositol glycan anchor biosynthesis class H	Always	In 1 condition
RNU5B-1RNA, U5B small nuclear 1	Always	In 1 condition
WARS1tryptophanyl-tRNA synthetase 1	Always	In 1 condition
C2orf69chromosome 2 open reading frame 69	Very often (80–99%)	In 1 condition
AGTPBP1ATP/GTP binding carboxypeptidase 1	Often (30–79%)	In 1 condition
DENND5ADENN domain containing 5A	Often (30–79%)	In 1 condition
HSPA9heat shock protein family A (Hsp70) member 9	Often (30–79%)	In 1 condition
ITGAVintegrin subunit alpha V	Often (30–79%)	In 1 condition
KAT5lysine acetyltransferase 5	Often (30–79%)	In 1 condition
LMNB1lamin B1	Often (30–79%)	In 1 condition
NONOnon-POU domain containing octamer binding	Often (30–79%)	In 2 conditions
THOC6THO complex subunit 6	Often (30–79%)	In 1 condition
DCHS1dachsous cadherin-related 1	Sometimes (5–29%)	In 1 condition
DDB1damage specific DNA binding protein 1	Sometimes (5–29%)	In 1 condition
FAT4FAT atypical cadherin 4	Sometimes (5–29%)	In 1 condition
KIAA0586KIAA0586	Sometimes (5–29%)	In 1 condition
NSRP1nuclear speckle splicing regulatory protein 1	Sometimes (5–29%)	In 1 condition
NT5C25'-nucleotidase, cytosolic II	Sometimes (5–29%)	In 1 condition
ODC1ornithine decarboxylase 1	Sometimes (5–29%)	In 1 condition
PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha	Sometimes (5–29%)	In 1 condition
PLXNA1plexin A1	Sometimes (5–29%)	In 1 condition
PPP1R12Aprotein phosphatase 1 regulatory subunit 12A	Sometimes (5–29%)	In 1 condition
PRORPprotein only RNase P catalytic subunit	Sometimes (5–29%)	In 1 condition
PTDSS1phosphatidylserine synthase 1	Sometimes (5–29%)	In 1 condition
PUS3pseudouridine synthase 3	Sometimes (5–29%)	In 1 condition
RTTNrotatin	Sometimes (5–29%)	In 1 condition
SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	Sometimes (5–29%)	In 1 condition
SIN3ASIN3 transcription regulator family member A	Sometimes (5–29%)	In 2 conditions
SIN3BSIN3 transcription regulator family member B	Sometimes (5–29%)	In 1 condition
SNF8SNF8 subunit of ESCRT-II	Sometimes (5–29%)	In 2 conditions
SONSON DNA and RNA binding protein	Sometimes (5–29%)	In 2 conditions
STXBP1syntaxin binding protein 1	Sometimes (5–29%)	In 1 condition
SVBPsmall vasohibin binding protein	Sometimes (5–29%)	In 1 condition
TSEN15tRNA splicing endonuclease subunit 15	Sometimes (5–29%)	In 1 condition
TSEN2tRNA splicing endonuclease subunit 2	Sometimes (5–29%)	In 1 condition
TSEN34tRNA splicing endonuclease subunit 34	Sometimes (5–29%)	In 1 condition
TSEN54tRNA splicing endonuclease subunit 54	Sometimes (5–29%)	In 1 condition
TUBA1Atubulin alpha 1a	Sometimes (5–29%)	In 1 condition

Show 7 more genes

Gene	How often it is seen	Conditions
TUBA8tubulin alpha 8	Sometimes (5–29%)	In 1 condition
ZNF462zinc finger protein 462	Sometimes (5–29%)	In 1 condition
ATAD3AATPase family AAA domain containing 3A	Not recorded	In 1 condition
EARS2glutamyl-tRNA synthetase 2, mitochondrial	Not recorded	In 1 condition
GPSM2G protein signaling modulator 2	Not recorded	In 1 condition
MCOLN1mucolipin TRP cation channel 1	Not recorded	In 1 condition
TBCKTBC1 domain containing kinase	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.

Broader traits

Abnormal corpus callosum morphology

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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