| Moderate intellectual disability |
C0026351 |
METTL23
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MTOR
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NAA15
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NDST1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NSUN2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Profound Mental Retardation |
C0020796 |
METTL23
|
Causal
Pathogenic evidence from ClinVar
|
24626631 |
ClinVar |
|
NAA15
|
Causal
Pathogenic evidence from ClinVar
|
28191889 |
ClinVar |
|
NAGLU
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
|
NDST1
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
|
NRXN1
|
Causal
Pathogenic evidence from ClinVar
|
18057082, 28191889 |
ClinVar |
|
NSD1
|
Causal
Pathogenic evidence from ClinVar
|
12807965 |
ClinVar |
| Severe intellectual disability |
C0036857 |
METTL23
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MTOR
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NAGLU
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NDST1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NRXN1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NSUN2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Intellectual Disability |
C3714756 |
METTL5
|
Causal
Pathogenic evidence from ClinVar
|
31564433 |
ClinVar |
|
MSL3
|
Causal
Pathogenic evidence from ClinVar
|
30224647 |
ClinVar |
|
MTOR
|
Causal
Pathogenic evidence from ClinVar
|
27159400 |
ClinVar |
|
MYT1L
|
Causal
Pathogenic evidence from ClinVar
|
21990140, 26240977 |
ClinVar |
|
NAA10
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NAA15
|
Causal
Pathogenic evidence from ClinVar
|
28191889 |
ClinVar |
|
NAGLU
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
|
NDST1
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
|
NEDD4L
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NLGN3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NRXN1
|
Causal
Pathogenic evidence from ClinVar
|
18057082, 28191889 |
ClinVar |
|
NSD1
|
Causal
Pathogenic evidence from ClinVar
|
12807965 |
ClinVar |
|
NSUN2
|
Causal
Pathogenic evidence from ClinVar
|
22144916, 22541559, 22541562, 22577224, 23816522, 24102521, 26055038, 26077850, 26582006, 28397838 |
ClinVar |
|
NUDT2
|
Causal
Pathogenic evidence from ClinVar
|
30059600 |
ClinVar |
|
NUS1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PACS1
|
Causal
Pathogenic evidence from ClinVar
|
23159249, 30712880 |
ClinVar |
|
PACS2
|
Causal
Pathogenic evidence from ClinVar
|
28867141 |
ClinVar |
|
PAFAH1B1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 |
C4225296 |
MYT1L
|
Causal
Pathogenic evidence from ClinVar
|
21990140, 26240977 |
ClinVar |
| Mental deficiency |
C0917816 |
NAA15
|
Causal
Pathogenic evidence from ClinVar
|
28191889 |
ClinVar |
|
NAGLU
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
|
NDST1
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
|
NRXN1
|
Causal
Pathogenic evidence from ClinVar
|
18057082, 28191889 |
ClinVar |
|
NSD1
|
Causal
Pathogenic evidence from ClinVar
|
12807965 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 |
C4540470 |
NAA15
|
Causal
Pathogenic evidence from ClinVar
|
28191889 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 |
C4015283 |
NDST1
|
Causal
Pathogenic evidence from ClinVar
|
21937992, 25125150 |
ClinVar |
| Mild Mental Retardation |
C0026106 |
NDST1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NSD1
|
Causal
Pathogenic evidence from ClinVar
|
26938784 |
ClinVar |
|
NSUN2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Mental Retardation |
C0025362 |
NLGN3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 |
C1970199 |
NSUN2
|
Causal
Pathogenic evidence from ClinVar
|
21063731, 22541559, 22541562 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES |
C4693371 |
NUS1
|
Causal
Pathogenic evidence from ClinVar
|
30348779 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 |
C3554343 |
PACS1
|
Causal
Pathogenic evidence from ClinVar
|
23159249, 26795593 |
ClinVar |
