| Severe intellectual disability |
C0036857 |
DYRK1A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
EDC3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
EEF1A2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FBXO31
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FMN2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FOXG1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FOXP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GATAD2B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50 |
C4225319 |
EDC3
|
Causal
Pathogenic evidence from ClinVar
|
25701870 |
ClinVar |
| Mild Mental Retardation |
C0026106 |
EDC3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
EP300
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FBXO31
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FMN2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FMR1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Moderate intellectual disability |
C0026351 |
EDC3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FBXO31
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FMN2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FMR1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FOXG1
|
Causal
Pathogenic evidence from ClinVar
|
26938784 |
ClinVar |
| Intellectual Disability |
C3714756 |
EEF1A2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
EIF3F
|
Causal
Pathogenic evidence from ClinVar
|
30409806 |
ClinVar |
|
ELP2
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
|
EP300
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FBXO31
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FMN2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
FMR1
|
Causal
Pathogenic evidence from ClinVar
|
15000256, 20425835 |
ClinVar |
|
FOXG1
|
Causal
Pathogenic evidence from ClinVar
|
18627055 |
ClinVar |
|
FOXP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GABRB2
|
Causal
Pathogenic evidence from ClinVar
|
27789573 |
ClinVar |
|
GABRB3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GABRG2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GNB1
|
Causal
Pathogenic evidence from ClinVar
|
28087732 |
ClinVar |
|
GRIA1
|
Causal
Pathogenic evidence from ClinVar
|
24896178 |
ClinVar |
|
GRIA4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GRIK2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 |
C4225343 |
EEF1A2
|
Causal
Pathogenic evidence from ClinVar
|
24697219 |
ClinVar |
| Mental deficiency |
C0917816 |
ELP2
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
|
FMR1
|
Causal
Pathogenic evidence from ClinVar
|
15000256, 20425835 |
ClinVar |
|
FOXG1
|
Causal
Pathogenic evidence from ClinVar
|
18627055 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58 |
C4310641 |
ELP2
|
Causal
Pathogenic evidence from ClinVar
|
25847581 |
ClinVar |
| Profound Mental Retardation |
C0020796 |
ELP2
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
|
FMR1
|
Causal
Pathogenic evidence from ClinVar
|
15000256, 20425835 |
ClinVar |
|
FOXG1
|
Causal
Pathogenic evidence from ClinVar
|
18627055 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 |
C4014864 |
FBXO31
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 |
C4015444 |
FMN2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES |
C3150923 |
FOXP1
|
Causal
Pathogenic evidence from ClinVar
|
12687690, 20950788, 24083349, 24214399, 25767709, 25853299, 26010426, 26494785, 26647308, 27657687, 28735298, 28884888, 29138280, 29330474, 30385778, 30631761 |
ClinVar |
| Borderline intellectual disability |
C0006009 |
GABRG2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 |
C3554448 |
GATAD2B
|
Causal
Pathogenic evidence from ClinVar
|
23644463, 28077840 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 |
C4310774 |
GNB1
|
Causal
Pathogenic evidence from ClinVar
|
25485910, 25529582, 27108799, 27668284, 28087732, 30194818 |
ClinVar |
| Mental Retardation |
C0025362 |
GRIA4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
