Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.
Philip
N
N
Chabrol
B
B
Lossi
A-M
AM
Cardoso
C
C
Guerrini
R
R
Dobyns
W B
WB
Raybaud
C
C
Villard
L
L
D000293:Adolescent; D001921:Brain / Q000254:growth & development / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities* / Q000254:growth & development / Q000473:pathology; D041321:Chromosomes, Human, X / Q000235:genetics*; D003598:Cytoskeletal Proteins; D004303:Dosage Compensation, Genetic; D005260:Female; D020690:GTPase-Activating Proteins; D008040:Genetic Linkage / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010750:Phosphoproteins / Q000235:genetics*
D003598:Cytoskeletal Proteins; D020690:GTPase-Activating Proteins; D009687:Nuclear Proteins; C111952:OPHN1 protein, human; D010750:Phosphoproteins