Cerebellar and brainstem "atrophy" in a patient with Kabuki make-up syndrome.
Yano
S
S
Matsuishi
T
T
Yoshino
M
M
Kato
H
H
Kojima
K
K
D000015:Abnormalities, Multiple / Q000145:classification / Q000473:pathology*; D000293:Adolescent; D000328:Adult; D001284:Atrophy; D001933:Brain Stem / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome