Gen-Panel
Intellektuelle Entwicklungsstörung, X-chromosomal (XLID, MRX, MRXS): ID038.06, 77 Gene
ACSL4,
AFF2,
AP1S2,
ARX,
ATP6AP2,
ATRX,
BRWD3,
CASK,
CLCN4,
CLIC2,
CNKSR2,
CSTF2,
CUL4B,
DDX3X,
DLG3,
EIF2S3,
FAM50A,
FGD1,
FGF13,
FMR1,
FRMPD4,
FTSJ1,
GDI1,
GLRA2,
GRIA3,
HCFC1,
HNRNPH2,
HS6ST2,
HUWE1,
IGBP1,
IL1RAPL1,
IQSEC2,
KDM5C,
KIF4A,
KLHL15,
LAS1L,
MECP2,
MED12,
MID2,
MSL3,
NEXMIF,
NKAP,
NONO,
OGT,
OPHN1,
PAK3,
PHF6,
PHF8,
POLA1,
PQBP1,
PRPS1,
RAB39B,
RBMX,
RLIM,
RPL10,
RPS6KA3,
SLC9A6,
SLC9A7,
SLC16A2,
SLITRK2,
SMS,
STEEP1,
SYN1,
SYP,
TAF1,
THOC2,
TSPAN7,
UBE2A,
UPF3B,
USP9X,
USP27X,
WNK3,
ZC4H2,
ZDHHC9,
ZFX,
ZMYM3,
ZNF711
Inkludierte Phänotypen
Intellektuelle Entwicklungsstörung, X-chromosomal, nicht-syndromal (XLID, MRX): 29 Gene
ACSL4,
AFF2,
ARX,
BRWD3,
DLG3,
FGF13,
FRMPD4,
FTSJ1,
GDI1,
HCFC1,
IL1RAPL1,
IQSEC2,
KIF4A,
KLHL15,
MID2,
NEXMIF,
OGT,
PAK3,
RAB39B,
RPS6KA3,
SLC9A7,
STEEP1,
SYN1,
SYP,
THOC2,
TSPAN7,
USP9X,
USP27X,
ZNF711
Intellektuelle Entwicklungsstörung, X-chromosomal, syndromal (MRXS): 52 Gene
AFF2,
AP1S2,
ARX,
ATP6AP2,
ATRX,
CASK,
CLCN4,
CLIC2,
CNKSR2,
CSTF2,
CUL4B,
DDX3X,
EIF2S3,
FAM50A,
FGD1,
FMR1,
GLRA2,
GRIA3,
HNRNPH2,
HS6ST2,
HUWE1,
IGBP1,
KDM5C,
LAS1L,
MECP2,
MED12,
MSL3,
NKAP,
NONO,
OPHN1,
PHF6,
PHF8,
POLA1,
PQBP1,
PRPS1,
RAB39B,
RBMX,
RLIM,
RPL10,
SLC9A6,
SLC16A2,
SLITRK2,
SMS,
TAF1,
UBE2A,
UPF3B,
USP9X,
WNK3,
ZC4H2,
ZDHHC9,
ZFX,
ZMYM3
HPO Terms
Intellectual disability, Learning difficulty, Speech delay, Seizure, Microcephaly, Macrocephaly, Facial dysmorphism, Behavioral abnormality, Motor delay, Hypotonia, Growth retardation, Macroorchidism, Autistic behavior, Feeding difficulty, Visual impairment, Hearing impairment, Short stature, Abnormal gait, Abnormal facial expression, Cortical atrophy
