Gen-Panel
Intellektuelle Entwicklungsstörung, autosomal-dominant (MRD, IDD): ID036.06, 105 Gene
ACTL6B,
ADNP,
AHDC1,
AP2M1,
ARID1A,
ARID1B,
ARID2,
ASH1L,
ATP2B1,
AUTS2,
BCL11A,
BCL11B,
BICRA,
BRPF1,
CACNG2,
CAMK2A,
CAMK2B,
CAMK2G,
CCNK,
CDH15,
CDK8,
CERT1,
CHAMP1,
CHD3,
CHD8,
CIC,
CLTC,
CNOT2,
CNOT3,
CTCF,
CTNNB1,
DDX6,
DEAF1,
DHX9,
DLG4,
DPF2,
DPP6,
DYNC1H1,
DYRK1A,
EEF1A2,
EPB41L1,
FBXO11,
FOXP1,
GATAD2B,
GNB1,
GRIA1,
GRIN1,
GRIN2B,
HIVEP2,
HNRNPC,
KAT6A,
KCNQ5,
KDM3B,
KDM4B,
KIF1A,
KMT2B,
KMT5B,
LMAN2L,
MBD5,
MED13,
MEF2C,
MTSS2,
MYT1L,
NAA15,
NR4A2,
NUS1,
PACS1,
PAK1,
PHF21A,
POGZ,
PPP2R1A,
PPP2R5D,
PURA,
RAC1,
RFX7,
RORA,
SET,
SETBP1,
SETD1B,
SETD2,
SETD5,
SMARCA4,
SMARCB1,
SMARCC2,
SMARCD1,
SMARCE1,
SOX4,
SOX6,
SOX11,
SRRM2,
STAG1,
SYNGAP1,
TAF4,
TANC2,
TBL1XR1,
TBR1,
TCP1,
TLK2,
TNPO2,
TRIO,
TRIP12,
USP7,
ZBTB18,
ZMYND11,
ZNF292
Inkludierte Phänotypen
Intellektuelle Entwicklungsstörung, autosomal dominant, nicht-syndromal (MRD): 62 Gene
AP2M1,
ARID1A,
ARID1B,
ASH1L,
ATP2B1,
AUTS2,
CACNG2,
CAMK2A,
CAMK2B,
CAMK2G,
CDH15,
CERT1,
CIC,
CLTC,
CTCF,
DEAF1,
DHX9,
DLG4,
DPP6,
DYNC1H1,
DYRK1A,
EEF1A2,
EPB41L1,
GATAD2B,
GNB1,
GRIA1,
GRIN2B,
HIVEP2,
HNRNPC,
KCNQ5,
KDM4B,
KMT2B,
KMT5B,
LMAN2L,
MBD5,
MED13,
MYT1L,
NAA15,
NUS1,
PACS1,
POGZ,
PPP2R1A,
PPP2R5D,
RAC1,
RFX7,
SET,
SETBP1,
SETD2,
SETD5,
SMARCA4,
SMARCB1,
SOX11,
SRRM2,
STAG1,
SYNGAP1,
TAF4,
TBL1XR1,
TLK2,
TRIO,
ZBTB18,
ZMYND11,
ZNF292
Intellektuelle Entwicklungsstörung, autosomal dominant, syndromal (IDD): 55 Gene
ACTL6B,
ADNP,
AHDC1,
ARID1A,
ARID1B,
ARID2,
BCL11A,
BCL11B,
BICRA,
BRPF1,
CCNK,
CDK8,
CERT1,
CHAMP1,
CHD3,
CHD8,
CNOT2,
CNOT3,
CTNNB1,
DDX6,
DEAF1,
DPF2,
FBXO11,
FOXP1,
GATAD2B,
GRIN1,
KAT6A,
KDM3B,
KIF1A,
MEF2C,
MTSS2,
NR4A2,
PACS1,
PAK1,
PHF21A,
POGZ,
PPP2R1A,
PPP2R5D,
PURA,
RORA,
SETD1B,
SMARCA4,
SMARCB1,
SMARCC2,
SMARCD1,
SMARCE1,
SOX4,
SOX6,
SOX11,
TANC2,
TBR1,
TCP1,
TNPO2,
TRIP12,
USP7
HPO Terms
Intellektuelle Entwicklungsstörung, autosomal-dominant (MRD, IDD): Microcephaly, Short stature, Severe muscular hypotonia, Severe growth retardation, Sensorineural hearing impairment, Moderately reduced visual acuity, Behavioral abnormality, Anxiety, ADHD, Sleep apnea, Scissor gait, Ataxia, Receptive language delay, Feeding difficulty, Epileptische Enzephalopathie, Diffuse white matter abnormalities, Speech delay, Kognitive Beeinträchtigung, Speech impairment, Language impairment
