| MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 |
C4693389 |
CLTC
|
Causal
Pathogenic evidence from ClinVar
|
26822784, 29100083 |
ClinVar |
| Intellectual Disability |
C3714756 |
CRADD
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CREBBP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CTCF
|
Causal
Pathogenic evidence from ClinVar
|
23746550 |
ClinVar |
|
CTNNB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CUL4B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CYP27A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DDX3X
|
Causal
Pathogenic evidence from ClinVar
|
25533962 |
ClinVar |
|
DEAF1
|
Causal
Pathogenic evidence from ClinVar
|
21076407 |
ClinVar |
|
DLG3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNMT3A
|
Causal
Pathogenic evidence from ClinVar
|
24614070 |
ClinVar |
|
DPP6
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DYNC1H1
|
Causal
Pathogenic evidence from ClinVar
|
21076407 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY |
C3281044 |
CRADD
|
Causal
Pathogenic evidence from ClinVar
|
22279524, 27773430 |
ClinVar |
| Mild Mental Retardation |
C0026106 |
CRADD
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRBN
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNMT3A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Moderate intellectual disability |
C0026351 |
CRADD
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRBN
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CUL4B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DDX3X
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DLG3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNMT3A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Severe intellectual disability |
C0036857 |
CRADD
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CRBN
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CTNNB1
|
Causal
Pathogenic evidence from ClinVar
|
2614104, 24668549, 27915094 |
ClinVar |
|
CUL4B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DDX3X
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DLG3
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DNMT3A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Mental Retardation, Autosomal Recessive 2 |
C1843942 |
CRBN
|
Causal
Pathogenic evidence from ClinVar
|
15557513, 18414909, 26633545, 28143899 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 21 |
C3809686 |
CTCF
|
Causal
Pathogenic evidence from ClinVar
|
21725066, 22854024, 23746550, 23874213, 27880914, 28619046, 28848059 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 |
C3554449 |
CTNNB1
|
Causal
Pathogenic evidence from ClinVar
|
2614104, 23033978, 24614104, 24668549, 25326669, 26968164, 27915094, 28514307 |
ClinVar |
| Mental Retardation |
C0025362 |
CUL4B
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DYRK1A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT |
C1845861 |
CUL4B
|
Causal
Pathogenic evidence from ClinVar
|
2000245, 17236139, 17273978, 19377476, 20002452, 22182342, 22763239, 24898194, 25385192 |
ClinVar |
| Mental deficiency |
C0917816 |
DEAF1
|
Causal
Pathogenic evidence from ClinVar
|
21076407 |
ClinVar |
|
DNMT3A
|
Causal
Pathogenic evidence from ClinVar
|
24614070 |
ClinVar |
|
DYNC1H1
|
Causal
Pathogenic evidence from ClinVar
|
21076407 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 |
C4014414 |
DEAF1
|
Causal
Pathogenic evidence from ClinVar
|
11690625, 21076407, 24726472, 26048982, 28213671, 28940898 |
ClinVar |
| Profound Mental Retardation |
C0020796 |
DEAF1
|
Causal
Pathogenic evidence from ClinVar
|
21076407 |
ClinVar |
|
DNMT3A
|
Causal
Pathogenic evidence from ClinVar
|
24614070 |
ClinVar |
|
DYNC1H1
|
Causal
Pathogenic evidence from ClinVar
|
21076407 |
ClinVar |
| Mental Retardation, X-Linked |
C1136249 |
DLG3
|
Causal
Pathogenic evidence from ClinVar
|
15185169 |
ClinVar |
| Mental Retardation, X-Linked Nonsyndromic |
C3501611 |
DLG3
|
Causal
Pathogenic evidence from ClinVar
|
15185169, 17344405, 19795139, 23103165, 24721225, 25649377, 27222290 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 |
C4225375 |
DPP6
|
Causal
Pathogenic evidence from ClinVar
|
23832105 |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 |
C3281202 |
DYNC1H1
|
Causal
Pathogenic evidence from ClinVar
|
21076407, 22368300, 22459677, 23033978, 23603762, 25140959, 26392352, 28193117, 29706646 |
ClinVar |
| DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion |
268261 |
DYRK1A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Intellectual disability syndrome due to a DYRK1A point mutation |
464311 |
DYRK1A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 |
C3279839 |
DYRK1A
|
Causal
Pathogenic evidence from ClinVar
|
23099646, 23160955, 25167861, 25533962, 25641759, 25707398, 25920557, 25944381, 26633545, 26922654, 27241786, 28053047, 29034068 |
ClinVar |
