×
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
Byzanthine arch palate
0.100
GeneticVariation
CLINVAR
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
31134736 2019
×
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
Byzanthine arch palate
0.100
GeneticVariation
CLINVAR
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
30817854 2019
×
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
Byzanthine arch palate
0.100
GeneticVariation
CLINVAR
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
30125677 2019
×
Entrez Id: 84294
Gene Symbol: UTP23
UTP23
Byzanthine arch palate
0.100
GeneticVariation
CLINVAR
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
30125677 2019
×
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
Byzanthine arch palate
0.100
CausalMutation
CLINVAR
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
28942966 2017
×
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
Byzanthine arch palate
0.100
CausalMutation
CLINVAR
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
26350204 2015
×
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
Byzanthine arch palate
0.100
GeneticVariation
CLINVAR
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
24121961 2014
×
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
Byzanthine arch palate
0.100
CausalMutation
CLINVAR
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
22426309 2012
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Byzanthine arch palate
0.100
CausalMutation
CLINVAR
[The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].
19065518 2008
×
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A
Byzanthine arch palate
0.100
CausalMutation
CLINVAR
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
15596759 2004
×
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
Byzanthine arch palate
0.100
CausalMutation
CLINVAR
×
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
Byzanthine arch palate
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
Byzanthine arch palate
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 124454
Gene Symbol: EARS2
EARS2
Byzanthine arch palate
0.100
CausalMutation
CLINVAR
×
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
Byzanthine arch palate
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A
Byzanthine arch palate
0.100
CausalMutation
CLINVAR
×
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
Byzanthine arch palate
0.100
CausalMutation
CLINVAR
×
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP
Byzanthine arch palate
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
Byzanthine arch palate
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
Byzanthine arch palate
0.100
CausalMutation
CLINVAR
×
Entrez Id: 55252
Gene Symbol: ASXL2
ASXL2
Byzanthine arch palate
0.100
CausalMutation
CLINVAR
×
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
Byzanthine arch palate
0.100
CausalMutation
CLINVAR
×
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
Byzanthine arch palate
0.100
CausalMutation
CLINVAR
×
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
Byzanthine arch palate
0.100
GeneticVariation
CLINVAR
×
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
Byzanthine arch palate
0.100
CausalMutation
CLINVAR