| Profound Mental Retardation |
C0020796 |
INPP4A
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
|
KANSL1
|
Causal
Pathogenic evidence from ClinVar
|
22544363, 22544367 |
ClinVar |
|
KDM5C
|
Causal
Pathogenic evidence from ClinVar
|
21076407 |
ClinVar |
| Intellectual Disability |
C3714756 |
IQSEC1
|
Causal
Pathogenic evidence from ClinVar
|
31607425 |
ClinVar |
|
IQSEC2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KANSL1
|
Causal
Pathogenic evidence from ClinVar
|
22544363, 22544367 |
ClinVar |
|
KAT6B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KCNB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KCNQ2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KCNQ5
|
Causal
Pathogenic evidence from ClinVar
|
28669405 |
ClinVar |
|
KDM5C
|
Causal
Pathogenic evidence from ClinVar
|
18697827, 21076407, 26919706 |
ClinVar |
|
KIF1A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KMT2A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KMT2C
|
Causal
Pathogenic evidence from ClinVar
|
22726846, 29069077 |
ClinVar |
|
KMT2D
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KMT2E
|
Causal
Pathogenic evidence from ClinVar
|
31079897 |
ClinVar |
|
KMT5B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
LINGO1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
LINS1
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
| Mental Retardation |
C0025362 |
IQSEC2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KDM5C
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KMT2E
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Mental Retardation, X-Linked |
C1136249 |
IQSEC2
|
Causal
Pathogenic evidence from ClinVar
|
20473311 |
ClinVar |
| MENTAL RETARDATION, X-LINKED 78 |
C1845181 |
IQSEC2
|
Causal
Pathogenic evidence from ClinVar
|
26793055 |
ClinVar |
| Mild Mental Retardation |
C0026106 |
IQSEC2
|
Causal
Pathogenic evidence from ClinVar
|
26733290 |
ClinVar |
|
KDM5B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KIF1C
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KMT2D
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Moderate intellectual disability |
C0026351 |
IQSEC2
|
Causal
Pathogenic evidence from ClinVar
|
26733290 |
ClinVar |
|
KCNQ3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KDM5B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KMT5B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Severe intellectual disability |
C0036857 |
IQSEC2
|
Causal
Pathogenic evidence from ClinVar
|
26733290 |
ClinVar |
|
KAT6B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KDM5B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KDM5C
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KIF1A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KMT2A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Mental deficiency |
C0917816 |
KANSL1
|
Causal
Pathogenic evidence from ClinVar
|
22544363, 22544367 |
ClinVar |
|
KDM5C
|
Causal
Pathogenic evidence from ClinVar
|
21076407 |
ClinVar |
|
LINS1
|
Causal
Pathogenic evidence from ClinVar
|
21937992 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 46 |
C4539851 |
KCNQ5
|
Causal
Pathogenic evidence from ClinVar
|
28669405, 30359776 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65 |
C4748219 |
KDM5B
|
Causal
Pathogenic evidence from ClinVar
|
29276005, 30217758, 30409806 |
ClinVar |
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE |
C1845243 |
KDM5C
|
Causal
Pathogenic evidence from ClinVar
|
10982473, 15586325, 16538222, 16541399, 17320160, 17468742, 18697827, 23356856, 25666439, 26919706 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 |
C3280283 |
KIF1A
|
Causal
Pathogenic evidence from ClinVar
|
21376300, 21820098, 25253658, 25265257, 25585697, 26125038, 26354034, 26410750, 27034427, 28362824, 28554332, 28834584 |
ClinVar |
| Mental Retardation, Autosomal Dominant 4 |
C2675487 |
KIRREL3
|
Causal
Pathogenic evidence from ClinVar
|
19012874 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 |
C4014435 |
KMT2D
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 |
C4225275 |
KMT2E
|
Causal
Pathogenic evidence from ClinVar
|
31079897 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 |
C4540474 |
KMT5B
|
Causal
Pathogenic evidence from ClinVar
|
25363768, 28191889, 29276005 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64 |
C4748192 |
LINGO1
|
Causal
Pathogenic evidence from ClinVar
|
28837161 |
ClinVar |
