| Global developmental delay |
C0557874 |
ADNP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ANKRD11
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ATRX
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
BRPF1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
CDK13
|
Causal
Pathogenic evidence from ClinVar
|
28807008 |
ClinVar |
|
CHD3
|
Causal
Pathogenic evidence from ClinVar
|
29463886 |
ClinVar |
|
CTNNB1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DHDDS
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
DYRK1A
|
Causal
Pathogenic evidence from ClinVar
|
25944381 |
ClinVar |
|
KANSL1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
KCNQ5
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
LAS1L
|
Causal
Pathogenic evidence from ClinVar
|
25644381 |
ClinVar |
|
MORC2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
MTO1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NAA15
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NDST1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NSD2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PACS1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PTEN
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
RLIM
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SCAMP5
|
Causal
Pathogenic evidence from ClinVar
|
20071347 |
ClinVar |
|
SET
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SLC6A1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SMARCA4
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
SRCAP
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TASP1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TBCK
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TUBB4A
|
Causal
Pathogenic evidence from ClinVar
|
24785942 |
ClinVar |
|
WDR45
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
ZMYND11
|
Causal
Pathogenic evidence from ClinVar
|
25217958 |
ClinVar |
|
AAAS
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
AAR2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
AARS1
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
ABAT
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
27903293 |
- |
|
ABCB7
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
ABCC6
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
ABCC8
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
ABHD5
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
ACADM
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
ACADS
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
ACADSB
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
ACAT2
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
|
ACD
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
- |
- |
| Profound global developmental delay |
C3553450 |
ATRX
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
TBCK
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES |
C4693376 |
DHDDS
|
Causal
Pathogenic evidence from ClinVar
|
27343064, 29100083 |
ClinVar |
| Gross motor development delay |
C1837658 |
DYRK1A
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
PTEN
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
WDR45
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Developmental Delay, Epilepsy, and Neonatal Diabetes |
C1853564 |
ABCC8
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
21109997, 22498247 |
- |
