| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 |
C3280538 |
LINS1
|
Causal
Pathogenic evidence from ClinVar
|
21937992, 23773660, 28181389, 30090841 |
ClinVar |
| Mild Mental Retardation |
C0026106 |
LINS1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
LMAN2L
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MBOAT7
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MECP2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MED23
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
METTL23
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Moderate intellectual disability |
C0026351 |
LINS1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
LMAN2L
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MBOAT7
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MECP2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MED12
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MED13L
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MED23
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MEF2C
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Profound Mental Retardation |
C0020796 |
LINS1
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
|
MECP2
|
Causal
Pathogenic evidence from ClinVar
|
19921286, 20098342 |
ClinVar |
|
MED13L
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
|
MEF2C
|
Causal
Pathogenic evidence from ClinVar
|
20412115 |
ClinVar |
| Severe intellectual disability |
C0036857 |
LINS1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
LMAN2L
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MBD5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MBOAT7
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MECP2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MED12
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MED23
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MEF2C
|
Causal
Pathogenic evidence from ClinVar
|
19592390, 19876902, 20513142, 23001426 |
ClinVar |
| Intellectual Disability |
C3714756 |
LMAN2L
|
Causal
Pathogenic evidence from ClinVar
|
26566883 |
ClinVar |
|
MAN2B1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MBD5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MBOAT7
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MECP2
|
Causal
Pathogenic evidence from ClinVar
|
10944834, 12065946, 17089071, 17881312, 19722030, 19921286, 20031356, 20098342 |
ClinVar |
|
MED12
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MED12L
|
Causal
Pathogenic evidence from ClinVar
|
31155615 |
ClinVar |
|
MED13L
|
Causal
Pathogenic evidence from ClinVar
|
21937992, 23403903 |
ClinVar |
|
MED23
|
Causal
Pathogenic evidence from ClinVar
|
25845469 |
ClinVar |
|
MEF2C
|
Causal
Pathogenic evidence from ClinVar
|
20412115 |
ClinVar |
|
METTL23
|
Causal
Pathogenic evidence from ClinVar
|
24626631 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52 |
C4225168 |
LMAN2L
|
Causal
Pathogenic evidence from ClinVar
|
26566883 |
ClinVar |
| Mental Retardation, Autosomal Dominant 1 |
C1969562 |
MBD5
|
Causal
Pathogenic evidence from ClinVar
|
17847001, 22726846 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 |
C4310673 |
MBOAT7
|
Causal
Pathogenic evidence from ClinVar
|
23097495 |
ClinVar |
| Mental deficiency |
C0917816 |
MECP2
|
Causal
Pathogenic evidence from ClinVar
|
19921286, 20098342 |
ClinVar |
|
MED13L
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
|
MEF2C
|
Causal
Pathogenic evidence from ClinVar
|
20412115 |
ClinVar |
|
METTL23
|
Causal
Pathogenic evidence from ClinVar
|
24626631 |
ClinVar |
| Mental Retardation |
C0025362 |
MECP2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MED13L
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18 |
C3280265 |
MED23
|
Causal
Pathogenic evidence from ClinVar
|
21868677, 25845469 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 |
C3150700 |
MEF2C
|
Causal
Pathogenic evidence from ClinVar
|
19592390, 19876902, 20513142, 23001426, 24896178, 26633545, 27255693 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 |
C4014745 |
METTL23
|
Causal
Pathogenic evidence from ClinVar
|
24501276, 24626631 |
ClinVar |
