Gen-Panel
Intellektuelle Entwicklungsstörung, autosomal-rezessiv (MRT, IDD): ID037.03, 77 Gene
ABCA2,
ACTL6B,
ADAT3,
ALG14,
ALKBH8,
ANK3,
APC2,
ASCC3,
CAMK2A,
CASP2,
CC2D1A,
CEP104,
CPE,
CRADD,
CRBN,
DEAF1,
EDC3,
EIF3F,
ELP2,
FBXL3,
FBXO31,
FERRY3,
FMN2,
GNB5,
GRIA1,
GRIK2,
HERC2,
HNMT,
IMPA1,
IQSEC1,
KDM5B,
KPTN,
LGI3,
LINGO1,
LINS1,
LMAN2L,
MAN1B1,
MBOAT7,
MED23,
METTL5,
METTL23,
NAA20,
NDST1,
NEMF,
NSUN2,
NSUN6,
NUDT2,
OTUD6B,
PDE2A,
PDZD8,
PGAP1,
PGAP2,
PIDD1,
PIGC,
PRSS12,
PUS7,
RSRC1,
RUSC2,
SCAPER,
SLC6A17,
SLC45A1,
ST3GAL3,
TAF2,
TAF13,
TECR,
TMEM94,
TNIK,
TPR,
TRAPPC9,
TRMT1,
TTI2,
TUSC3,
WASHC4,
WDR11,
WIPI2,
ZBTB11,
ZC3H14
Inkludierte Phänotypen
Intellektuelle Entwicklungsstörung, autosomal-rezessiv, nicht-syndromal (MRT): 58 Gene
ADAT3,
ALKBH8,
ANK3,
APC2,
ASCC3,
CAMK2A,
CASP2,
CC2D1A,
CEP104,
CRADD,
CRBN,
EDC3,
EIF3F,
ELP2,
FBXO31,
FERRY3,
FMN2,
GRIA1,
GRIK2,
HERC2,
HNMT,
IMPA1,
KDM5B,
KPTN,
LINGO1,
LINS1,
LMAN2L,
MAN1B1,
MBOAT7,
MED23,
METTL5,
METTL23,
NAA20,
NDST1,
NSUN2,
NSUN6,
PGAP1,
PGAP2,
PIDD1,
PIGC,
PRSS12,
RSRC1,
RUSC2,
SLC6A17,
ST3GAL3,
TAF2,
TAF13,
TECR,
TNIK,
TPR,
TRAPPC9,
TRMT1,
TTI2,
TUSC3,
WASHC4,
WDR11,
ZBTB11,
ZC3H14
Intellektuelle Entwicklungsstörung, autosomal-rezessiv, syndromal (IDD): 20 Gene
ABCA2,
ALG14,
CPE,
DEAF1,
FBXL3,
GNB5,
IQSEC1,
LGI3,
NEMF,
NUDT2,
OTUD6B,
PDE2A,
PDZD8,
PUS7,
SCAPER,
SLC45A1,
TAF2,
TMEM94,
WIPI2,
ZBTB11
HPO Terms
Intellectual disability, moderate, Global developmental delay, Seizure, Ataxia, Gait disturbance, Hypotonia, Dysarthria, Microcephaly, Cerebellar atrophy, Abnormal corpus callosum morphology, Feeding difficulties, Growth delay, Speech delay, Hyperreflexia, Dysphagia, Visual impairment, Auditory impairment, Aggressive behavior, Motor delay, Nystagmus
