Hypotonia-cystinuria syndrome

Disease Term Disease ID Gene Symbol Classification References Source
ATYPICAL HYPOTONIA CYSTINURIA SYNDROME
C4755274
CAMKMT Unknown — Disgenet
PREPL Unknown — Disgenet
SLC3A1 Unknown — Disgenet
ATYPICAL HYPOTONIA-CYSTINURIA SYNDROME
238523
CAMKMT Unknown
18234729
Orphanet
PREPL Unknown
18234729
Orphanet
SLC3A1 Unknown
18234729
Orphanet