Mitochondria Phenome Knowledgebase

Phenotypic Feature Corpus-callosum-hypoplasia finds 18 Gene-Feature associations that are associated with 18 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABAT 137150 Corpus-callosum-hypoplasia MRI findings; corpus callosum agenesis neurologic 10407778
ATPAF2 604273 Corpus-callosum-hypoplasia dysgenesis; absent anterior genu; absent rostrum neurologic 14757859
CPT2 600649 Corpus-callosum-hypoplasia MRI findings; absence corpus callosum; dysplasia; dysplastic corpus callosum neurologic 11389301 11477613
CYB5R3 250800 Corpus-callosum-hypoplasia corpus callosum atrophy neurologic 11295830
CYP11A1 201710 Corpus-callosum-hypoplasia agenesis of corpus callosum; CT findings neurologic 16705068
CYP27A1 213700 Corpus-callosum-hypoplasia corpus callosum atrophy neurologic 14572142
DMPK 160900 Corpus-callosum-hypoplasia corpus callosum atrophy neurologic 10323316 10385049
ETHE1 602473 Corpus-callosum-hypoplasia thin corpus callosum neurologic 12382164
FH 606812 Corpus-callosum-hypoplasia corpus callosum agenesis neurologic 2515378 9635293 16156009
GCDH 231670 Corpus-callosum-hypoplasia thinning; late onset form neurologic 12888985 15985591
GFM1 609060 Corpus-callosum-hypoplasia neurologic 15537906
MRPS16 609204 Corpus-callosum-hypoplasia MRI findings; corpus callosum agenesis neurologic 15505824
NDUFA12L 252010 Corpus-callosum-hypoplasia reduced to very thin lamina neurologic 16200211
PDHA1 312170 Corpus-callosum-hypoplasia corpus callosum hypoplasia; agenesis corpus callosum neurologic 8504306 8504309 9187674 9686362 10486093 15384102 16256390
PDHB 179060 Corpus-callosum-hypoplasia MRI findings; corpus callosum agenesis neurologic 15138885
PDHX 245349 Corpus-callosum-hypoplasia MRI findings; corpus callosum agenesis; Leigh like; corpus callosum thinning neurologic 8584393 9399911 9501264 11935326 12557299 15303005
SLC25A15 238970 Corpus-callosum-hypoplasia MRI findings; hypoplasia of the corpus callosum neurologic 9329423
SPAST 182601 Corpus-callosum-hypoplasia rare finding neurologic 15210521

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