MCAHS2 | H01486 | Multiple congenital anomalies-hypotonia-seizures syndrome |
MCAHS4 | H01486 | Multiple congenital anomalies-hypotonia-seizures syndrome |
HPMRS6 | H01488 | Hyperphosphatasia with mental retardation syndrome |
CHIME | H01487 | CHIME syndrome |
HPMRS5 | H01488 | Hyperphosphatasia with mental retardation syndrome |
PIGM-CDG | H01127 | PIGM-congenital disorder of glycosylation |
HPMRS1 | H01488 | Hyperphosphatasia with mental retardation syndrome |
MCAHS1 | H01486 | Multiple congenital anomalies-hypotonia-seizures syndrome |
HPMRS2 | H01488 | Hyperphosphatasia with mental retardation syndrome |
MCAHS3 | H01486 | Multiple congenital anomalies-hypotonia-seizures syndrome |
MRT42 | H01485 | Autosomal recessive mental retardation-42 |