Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects.
Zannolli
R
R
Micheli
V
V
Mazzei
M A
MA
Sacco
P
P
Piomboni
P
P
Bruni
E
E
Miracco
C
C
de Santi
M M
MM
Terrosi Vagnoli
P
P
Volterrani
L
L
Pellegrini
L
L
Livi
W
W
Lucani
B
B
Gonnelli
S
S
Burlina
A B
AB
Jacomelli
G
G
Macucci
F
F
Pucci
L
L
Fimiani
M
M
Swift
J A
JA
Zappella
M
M
Morgese
G
G
D001321:Autistic Disorder / Q000235:genetics*; D001851:Bone Diseases, Metabolic / Q000235:genetics*; D002648:Child; D002658:Developmental Disabilities / Q000235:genetics*; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000235:genetics*; D008297:Male; D009397:Nephrocalcinosis / Q000235:genetics*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000652:urine; D014071:Tooth Abnormalities / Q000235:genetics*; D014970:Xanthines / Q000652:urine*
D014970:Xanthines