Seckel Syndrome
Watchlist
Retrieved
2021-01-23
Source
Trials
—
Genes
ATR,
CENPJ,
PCNT,
ATRIP,
TRAIP,
CENPE,
PLK4,
CEP152,
DNA2,
LIG4,
WDR4,
RBBP8,
ORC1,
ORC4,
IGF1,
XRCC4,
ORC6,
DNMT3A,
GMNN,
CENPF,
CDC6,
CDT1,
LZTR1,
KRAS,
PTPN11,
RAF1,
CEP63,
SOS1,
RIT1,
RTTN
ATR,
CENPJ,
PCNT,
ATRIP,
TRAIP,
CENPE,
PLK4,
CEP152,
DNA2,
LIG4,
WDR4,
RBBP8,
ORC1,
ORC4,
IGF1,
XRCC4,
ORC6,
DNMT3A,
GMNN,
CENPF,
CDC6,
CDT1,
LZTR1,
KRAS,
PTPN11,
RAF1,
CEP63,
SOS1,
RIT1,
RTTN,
NIN,
ATM,
AIMP2,
GRAP2,
BRCA1,
CD5L,
CD69,
MCPH1,
CHEK1,
LARP7,
CRK,
MAPK14,
DONSON,
POLDIP2,
DNMT1,
RNF19A,
FANCA,
FANCC,
PNKP,
FAH,
H2AX,
AHSA1,
MAPK1,
TELO2,
CEP135,
TUBGCP6
Drugs
—
Registered!
Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.