| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6 |
C1970198 |
GRIK2
|
Causal
Pathogenic evidence from ClinVar
|
17847003 |
ClinVar |
| Mild Mental Retardation |
C0026106 |
GRIK2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
HNMT
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
HUWE1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Moderate intellectual disability |
C0026351 |
GRIK2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GRIN2A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GRIN2B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
HDAC8
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
HNMT
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
HUWE1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
IL1RAPL1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Severe intellectual disability |
C0036857 |
GRIK2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GRIN1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GRIN2A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GRIN2B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
HDAC8
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
HNMT
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
HNRNPU
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
HUWE1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
IL1RAPL1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Intellectual Disability |
C3714756 |
GRIN1
|
Causal
Pathogenic evidence from ClinVar
|
28051072 |
ClinVar |
|
GRIN2A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
GRIN2B
|
Causal
Pathogenic evidence from ClinVar
|
20890276 |
ClinVar |
|
HDAC4
|
Causal
Pathogenic evidence from ClinVar
|
20691407 |
ClinVar |
|
HDAC8
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
HEXA
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
|
HIVEP2
|
Causal
Pathogenic evidence from ClinVar
|
26350204 |
ClinVar |
|
HNMT
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
HNRNPU
|
Causal
Pathogenic evidence from ClinVar
|
27652284 |
ClinVar |
|
HUWE1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
IMPA1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
INPP4A
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
| Mental Retardation |
C0025362 |
GRIN1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
IL1RAPL1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Borderline intellectual disability |
C0006009 |
GRIN2A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Mental deficiency |
C0917816 |
GRIN2B
|
Causal
Pathogenic evidence from ClinVar
|
20890276 |
ClinVar |
|
HDAC4
|
Causal
Pathogenic evidence from ClinVar
|
20691407 |
ClinVar |
|
HEXA
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
|
INPP4A
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 |
C3151411 |
GRIN2B
|
Causal
Pathogenic evidence from ClinVar
|
20890276, 23033978, 23160955, 23934111, 24863970, 25356899, 27572814, 27839871, 28095420 |
ClinVar |
| Profound Mental Retardation |
C0020796 |
GRIN2B
|
Causal
Pathogenic evidence from ClinVar
|
20890276 |
ClinVar |
|
HDAC4
|
Causal
Pathogenic evidence from ClinVar
|
20691407 |
ClinVar |
|
HEXA
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 |
C4310771 |
HIVEP2
|
Causal
Pathogenic evidence from ClinVar
|
26350204 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51 |
C4225220 |
HNMT
|
Causal
Pathogenic evidence from ClinVar
|
26206890, 30744146 |
ClinVar |
| Mental Retardation, X-Linked Nonsyndromic |
C3501611 |
HUWE1
|
Causal
Pathogenic evidence from ClinVar
|
18252223, 18488021, 19686682, 20231446, 22840365, 23092983, 23721686, 24303071, 24960692, 25652354, 26587761, 27130160, 27418510, 27615324, 28445732 |
ClinVar |
| Mental Retardation, X-Linked, Syndromic, Turner Type |
C2678046 |
HUWE1
|
Causal
Pathogenic evidence from ClinVar
|
18252223, 27130160 |
ClinVar |
| Mental Retardation, X-Linked |
C1136249 |
IL1RAPL1
|
Causal
Pathogenic evidence from ClinVar
|
18801879 |
ClinVar |
| MENTAL RETARDATION, X-LINKED 34 (disorder) |
C0796241 |
IL1RAPL1
|
Causal
Pathogenic evidence from ClinVar
|
10471494, 16470793, 18801879, 19012350, 24680889, 28576939 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 59 |
C4310619 |
IMPA1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
