|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background.
|
25914885 |
2019 |
|
| Entrez Id: |
22827 |
| Gene Symbol: |
PUF60 |
PUF60
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
|
28990276 |
2018 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Expanding the neurodevelopmental phenotype of PURA syndrome.
|
29150892 |
2018 |
|
| Entrez Id: |
22827 |
| Gene Symbol: |
PUF60 |
PUF60
|
Dysmorphic features
|
0.100 |
GeneticVariation |
CLINVAR |
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
|
28990276 |
2018 |
|
| Entrez Id: |
1278 |
| Gene Symbol: |
COL1A2 |
COL1A2
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Osteogenesis imperfecta - A clinical update.
|
28625337 |
2018 |
|
| Entrez Id: |
3190 |
| Gene Symbol: |
HNRNPK |
HNRNPK
|
Dysmorphic features
|
0.100 |
GeneticVariation |
CLINVAR |
Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.
|
28374925 |
2018 |
|
| Entrez Id: |
1278 |
| Gene Symbol: |
COL1A2 |
COL1A2
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern.
|
28916840 |
2018 |
|
| Entrez Id: |
64132 |
| Gene Symbol: |
XYLT2 |
XYLT2
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Homozygous XYLT2 variants as a cause of spondyloocular syndrome.
|
29136277 |
2018 |
|
| Entrez Id: |
6662 |
| Gene Symbol: |
SOX9 |
SOX9
|
Dysmorphic features
|
0.100 |
GeneticVariation |
CLINVAR |
The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation.
|
28965976 |
2018 |
|
| Entrez Id: |
84706 |
| Gene Symbol: |
GPT2 |
GPT2
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.
|
29226631 |
2018 |
|
| Entrez Id: |
8621 |
| Gene Symbol: |
CDK13 |
CDK13
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
|
29021403 |
2018 |
|
| Entrez Id: |
1778 |
| Gene Symbol: |
DYNC1H1 |
DYNC1H1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.
|
29243232 |
2018 |
|
| Entrez Id: |
93210 |
| Gene Symbol: |
PGAP3 |
PGAP3
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.
|
28390064 |
2018 |
|
| Entrez Id: |
53335 |
| Gene Symbol: |
BCL11A |
BCL11A
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.
|
28960836 |
2018 |
|
| Entrez Id: |
55690 |
| Gene Symbol: |
PACS1 |
PACS1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.
|
28975623 |
2018 |
|
| Entrez Id: |
3000 |
| Gene Symbol: |
GUCY2D |
GUCY2D
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.
|
29061346 |
2018 |
|
| Entrez Id: |
79813 |
| Gene Symbol: |
EHMT1 |
EHMT1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
First prenatal diagnosis of a 'pure' 9q34.3 deletion (Kleefstra syndrome): A case report and literature review.
|
29160022 |
2018 |
|
| Entrez Id: |
1788 |
| Gene Symbol: |
DNMT3A |
DNMT3A
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.
|
28386848 |
2018 |
|
| Entrez Id: |
894 |
| Gene Symbol: |
CCND2 |
CCND2
|
Dysmorphic features
|
0.100 |
GeneticVariation |
CLINVAR |
Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.
|
28941273 |
2018 |
|
| Entrez Id: |
8621 |
| Gene Symbol: |
CDK13 |
CDK13
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.
|
29222009 |
2018 |
|
| Entrez Id: |
1795 |
| Gene Symbol: |
DOCK3 |
DOCK3
|
Dysmorphic features
|
0.100 |
GeneticVariation |
CLINVAR |
DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.
|
29130632 |
2018 |
|
SOX9-AS1
|
Dysmorphic features
|
0.100 |
GeneticVariation |
CLINVAR |
The presence of diminished white matter and corpus callosal thinning in a case with a SOX9 mutation.
|
28965976 |
2018 |
|
| Entrez Id: |
1892 |
| Gene Symbol: |
ECHS1 |
ECHS1
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.
|
28755360 |
2018 |
|
| Entrez Id: |
6448 |
| Gene Symbol: |
SGSH |
SGSH
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
How close are we to therapies for Sanfilippo disease?
|
28921412 |
2018 |
|
| Entrez Id: |
53335 |
| Gene Symbol: |
BCL11A |
BCL11A
|
Dysmorphic features
|
0.100 |
CausalMutation |
CLINVAR |
Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.
|
28589569 |
2018 |