|
|
|
|
|
|
|
| | |
autosomal dominant intellectual developmental disorder 26
|
AUTS2*
|
Auts2*
|
1 model
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 38
|
EEF1A2*
|
Eef1a2*
|
1 model
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 39
|
MYT1L*
|
Myt1l*
|
2 models
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 7
|
DYRK1A*
|
Dyrk1a*
|
1 model
|
Alliance of Genome Resources
|
Coffin-Siris syndrome 1
|
ARID1B*
|
Arid1b*
|
1 model
|
Alliance of Genome Resources
|
GAND syndrome
|
GATAD2B*
|
Gatad2b*
|
1 model
|
Alliance of Genome Resources
|
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
|
BPTF*
|
Bptf*
|
1 model
|
Alliance of Genome Resources
|
Pierpont syndrome
|
TBL1XR1*
|
Tbl1xr1*
|
1 model
|
Alliance of Genome Resources
|
Xia-Gibbs Syndrome
|
AHDC1*
|
Ahdc1*
|
1 model
|
Alliance of Genome Resources
|
| | |
autosomal dominant intellectual developmental disorder
|
MBD5
|
Mbd5*
|
1 model
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder
|
ZBTB18
|
Zbtb18*
|
1 model
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder
|
AUTS2
|
Auts2*
|
1 model
|
Alliance of Genome Resources
|
Coffin-Siris syndrome
|
ARID1A
|
Arid1a*
|
2 models
|
Alliance of Genome Resources
|
| | |
Arboleda-Tham syndrome
|
KAT6A*
|
Kat6a
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder
|
AP2M1*
|
Ap2m1
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder
|
ATP2B1*
|
Atp2b1
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder
|
CAMK2G*
|
Camk2g
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder
|
DIP2B*
|
Dip2b
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder
|
DLG4*
|
Dlg4
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder
|
GRIA1*
|
Gria1
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder
|
HNRNPC*
|
Hnrnpc
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder
|
KDM4B*
|
Kdm4b
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder
|
KMT2B*
|
Kmt2b
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder
|
LMAN2L*
|
Lman2l
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder
|
TLK2*
|
Tlk2
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder
|
TRIO*
|
Trio
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder
|
ZNF292*
|
Zfp292
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder
|
MED13*
|
Med13
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder
|
RFX7*
|
Rfx7
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder
|
SET*,
SETSIP
|
Set
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder
|
SETD2*
|
Setd2
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder
|
SRRM2*
|
Srrm2
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder
|
TAF4*
|
Taf4
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 1
|
MBD5*
|
Mbd5
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 10
|
CACNG2*
|
Cacng2
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 11
|
EPB41L1*
|
Epb41l1
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 13
|
DYNC1H1*
|
Dync1h1
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 19
|
CTNNB1*
|
Ctnnb1
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 21
|
CTCF*
|
Ctcf
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 22
|
ZBTB18*
|
Zbtb18
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 23
|
SETD5*
|
Setd5
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 29
|
SETBP1*
|
Setbp1
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 3
|
CDH15*
|
Cdh15
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 30
|
ZMYND11*
|
Zmynd11
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 31
|
PURA*
|
Pura
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 33
|
DPP6*
|
Dpp6
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 34
|
CERT1*
|
Cert1
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 35
|
PPP2R5D*
|
Ppp2r5d
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 36
|
PPP2R1A*
|
Ppp2r1a
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 40
|
CHAMP1*
|
Champ1
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 41
|
TBL1XR1*
|
Tbl1xr1
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 42
|
GNB1*
|
Gnb1
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 43
|
HIVEP2*
|
Hivep2
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 44
|
TRIO*
|
Trio
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 45
|
CIC*
|
Cic
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 46
|
KCNQ5*
|
Kcnq5
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 47
|
STAG1*
|
Stag1
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 48
|
RAC1*
|
Rac1
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 5
|
SYNGAP1*
|
Syngap1
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 50
|
NAA15*
|
Naa15
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 51
|
KMT5B*
|
Kmt5b
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 52
|
ASH1L*
|
Ash1l
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 53
|
CAMK2A*
|
Camk2a
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 54
|
CAMK2B*
|
Camk2b
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 55
|
NUS1*
|
Nus1
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 56
|
CLTC*
|
Cltc
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 6
|
GRIN2B*
|
Grin2b
|
|
Alliance of Genome Resources
|
autosomal dominant intellectual developmental disorder 8
|
GRIN1*
|
Grin1
|
|
Alliance of Genome Resources
|
Clark-Baraitser syndrome
|
TRIP12*
|
Trip12
|
|
Alliance of Genome Resources
|
Coffin-Siris syndrome
|
ARID1B*
|
Arid1b
|
|
Alliance of Genome Resources
|
Coffin-Siris syndrome 10
|
SOX4*
|
Sox4
|
|
Alliance of Genome Resources
|
Coffin-Siris syndrome 11
|
SMARCD1*
|
Smarcd1
|
|
Alliance of Genome Resources
|
Coffin-Siris syndrome 12
|
BICRA*
|
Bicra
|
|
Alliance of Genome Resources
|
Coffin-Siris syndrome 2
|
ARID1A*
|
Arid1a
|
|
Alliance of Genome Resources
|
Coffin-Siris syndrome 3
|
SMARCB1*
|
Smarcb1
|
|
Alliance of Genome Resources
|
Coffin-Siris syndrome 4
|
SMARCA4*
|
Smarca4
|
|
Alliance of Genome Resources
|
Coffin-Siris syndrome 5
|
SMARCE1*
|
Smarce1
|
|
Alliance of Genome Resources
|
Coffin-Siris syndrome 6
|
ARID2*
|
Arid2
|
|
Alliance of Genome Resources
|
Coffin-Siris syndrome 7
|
DPF2*
|
Dpf2
|
|
Alliance of Genome Resources
|
Coffin-Siris syndrome 8
|
SMARCC2*
|
Smarcc2
|
|
Alliance of Genome Resources
|
Coffin-Siris syndrome 9
|
SOX11*
|
Sox11
|
|
Alliance of Genome Resources
|
developmental delay, dysmorphic facies, and brain anomalies
|
U2AF2*
|
U2af2
|
|
Alliance of Genome Resources
|
developmental delay, hypotonia, and impaired language
|
FBXW7*
|
Fbxw7
|
|
Alliance of Genome Resources
|
Helsmoortel-Van Der Aa Syndrome
|
ADNP*
|
Adnp
|
|
Alliance of Genome Resources
|
intellectual developmental disorder with autistic features and language delay, with or without seizures
|
TANC2*
|
Tanc2
|
|
Alliance of Genome Resources
|
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
|
TNPO2*
|
Tnpo2
|
|
Alliance of Genome Resources
|
Luo-Schoch-Yamamoto syndrome
|
RNF2*
|
Rnf2
|
|
Alliance of Genome Resources
|
NESCAV syndrome
|
KIF1A*
|
Kif1a
|
|
Alliance of Genome Resources
|
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
|
SRSF1*
|
Srsf1
|
|
Alliance of Genome Resources
|
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
|
SUPT16H*
|
Supt16
|
|
Alliance of Genome Resources
|
neurodevelopmental disorder with eye movement abnormalities and ataxia
|
FRMD5*
|
Frmd5
|
|
Alliance of Genome Resources
|
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
|
CACNA1C*
|
Cacna1c
|
|
Alliance of Genome Resources
|
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
|
MEF2C*
|
Mef2c
|
|
Alliance of Genome Resources
|
neurodevelopmental disorder with speech impairment and dysmorphic facies
|
SETD1A*
|
Setd1a
|
|
Alliance of Genome Resources
|
Schuurs-Hoeijmakers Syndrome
|
PACS1*
|
Pacs1
|
|
Alliance of Genome Resources
|
Sifrim-Hitz-Weiss syndrome
|
CHD4*
|
Chd4
|
|
Alliance of Genome Resources
|
Vulto-van Silfout-de Vries syndrome
|
DEAF1*
|
Deaf1
|
|
Alliance of Genome Resources
|
White-Sutton syndrome
|
POGZ*
|
Pogz
|
|
Alliance of Genome Resources
|