Mitochondria Phenome Knowledgebase

Phenotypic Feature Cerebellar-atrophy finds 29 Gene-Feature associations that are associated with 28 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABAT 137150 Cerebellar-atrophy MRI findings; cerebellar hypoplasia; cerebellar atrophy neurologic 10407778
ABCB7 301310 Cerebellar-atrophy cerebellar hypoplasia; pons atrophy; medulla atrophy; brain stem atrophy; cerebellar atrophy neurologic 11050011 11118249
ABCD1 300100 Cerebellar-atrophy pons atrophy; cerebellum atrophy; cerebellar atrophy; cerebellar hemispheres abnormal neurologic 9702690
ACSL4 300387 Cerebellar-atrophy MRI findings neurologic 11889465
ALDH5A1 271980 Cerebellar-atrophy decreased cerebellar size; cerebellar hypometabolism; cerebellar atrophy; vermian atrophy; cerebellar vermis atrophy; retrocerebellar cysts; cerebellar hypoplasia; MRI findings neurologic 9093300 12743223 14512218 15059623 15287248
BCKDHA 248600 Cerebellar-atrophy MRI findings; cerebellar volume loss neurologic 16601891
BCS1L 124000 Cerebellar-atrophy cerebellar atrophy neurologic 12910490
CLN3 204200 Cerebellar-atrophy cerebellar atrophy neurologic 7553855 9392580
CLN3 204200 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; cortical atrophy; central atrophy; cerebellar atrophy; striatum abnormal; white matter abnormal; periventricular white matter abnormal; myelination impaired neurologic 7553855 9392580 10720276 12363103 15032383 16087292
COX15 220110 Cerebellar-atrophy cerebellar atrophy; bilateral atrophy; cerebellar white matter abnormalities neurologic 15863660
CYB5R3 250800 Cerebellar-atrophy MRI findings; cerebellar atrophy neurologic 10874300
CYP27A1 213700 Cerebellar-atrophy neuroimaging findings; diffuse cerebellar atrophy neurologic 14572142 16157755
ETHE1 602473 Cerebellar-atrophy cerebellar hypothrophy; vermis; pons; cerebellar atrophy neurologic 12382164
FXN 229300 Cerebellar-atrophy cerebellar vermian atrophy; superior vermis; cerebellar atrophy neurologic 11809170 12745158 16344344
HD 143100 Cerebellar-atrophy cerebellar atrophy; vermis atrophy; cerebellar hemispheres abnormal neurologic 12820545 15338298 15526960
NDUFA12L 252010 Cerebellar-atrophy spongiform changes; vermian atrophy; cerebellar atrophy neurologic 16200211
OTC 311250 Cerebellar-atrophy cerebellar degeneration; grumose degeneration; cerebellar atrophy neurologic 11891099
PDHA1 312170 Cerebellar-atrophy MRI findings; cerebellar defect; cerebellar dentate nuclei abnormal; loss of dentate nucleus; cerebellar atrophy neurologic 10486093 15384102
PEO1 271245 Cerebellar-atrophy MRI findings; Pathology findings; Purkinje cells loss; neuronal loss and necrosis; cerebellar hemispheres degeneration; cerebellar atrophy neurologic 8133312 9027505 9879682 16135556
POLG 203700 Cerebellar-atrophy cerebellar dysfunction neurologic 15689359
POLG 258450 Cerebellar-atrophy cerebellar vermis atrophy; superior cerebellar vermis atrophy neurologic 16638794
POLG 607459 Cerebellar-atrophy cerebellar atrophy neurologic 15824347
SCO2 604377 Cerebellar-atrophy cerebellar atrophy neurologic 10749987
SLC25A19 607196 Cerebellar-atrophy cerebellar hypoplasia; pons; vermis; cerebellar atrophy neurologic 12185364 12376931
SPAST 182601 Cerebellar-atrophy cerebellar atrophy; cerebellar vermis atrophy neurologic 15210521 15667412
SPG7 607259 Cerebellar-atrophy MRI findings; cerebellar atrophy neurologic 9635427 14985266 16534102
SUOX 272300 Cerebellar-atrophy MRI findings; signal intensity abnormalities; cerebellar hypoplasia; hypoplasia; vermis hypoplasia neurologic 9600976 10519592 12001203
SURF1 220110 Cerebellar-atrophy cerebellar atrophy neurologic 15214016
TK2 609560 Cerebellar-atrophy MRI findings; cerebellar atrophy; inferior part of the vermis; cerebellar vermis hypotrophy neurologic 12269728 16504786
UROS 263700 Cerebellar-atrophy cerebellar vermis hypoplasia; hypoplastic cerebellum neurologic 12533808
WFS1 222300 Cerebellar-atrophy pons; pontocerebellar atrophy neurologic 10521293 12707373 15151504 15605410

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