×
Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER
Poor school performance
0.100
CausalMutation
CLINVAR
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.
30723319 2019
×
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
Poor school performance
0.100
CausalMutation
CLINVAR
Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.
30267900 2019
×
Entrez Id: 84294
Gene Symbol: UTP23
UTP23
Poor school performance
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: 5885
Gene Symbol: RAD21
RAD21
Poor school performance
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: 7701
Gene Symbol: ZNF142
ZNF142
Poor school performance
0.100
GeneticVariation
CLINVAR
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
31036918 2019
×
Entrez Id: 54965
Gene Symbol: PIGX
PIGX
Poor school performance
0.100
CausalMutation
CLINVAR
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.
29127258 2018
×
Entrez Id: 5977
Gene Symbol: DPF2
DPF2
Poor school performance
0.100
CausalMutation
CLINVAR
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
29429572 2018
×
Entrez Id: 8936
Gene Symbol: WASF1
WASF1
Poor school performance
0.100
CausalMutation
CLINVAR
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
29961568 2018
×
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
Poor school performance
0.100
CausalMutation
CLINVAR
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
27550844 2018
×
Entrez Id: 84984
Gene Symbol: CEP19
CEP19
Poor school performance
0.100
CausalMutation
CLINVAR
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.
29127258 2018
×
Entrez Id: 7343
Gene Symbol: UBTF
UBTF
Poor school performance
0.100
GeneticVariation
CLINVAR
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
29300972 2018
×
Entrez Id: 23498
Gene Symbol: HAAO
HAAO
Poor school performance
0.100
CausalMutation
CLINVAR
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
28792876 2017
×
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
Poor school performance
0.100
CausalMutation
CLINVAR
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
29100089 2017
×
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
Poor school performance
0.100
CausalMutation
CLINVAR
Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.
28077840 2017
×
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
Poor school performance
0.100
GeneticVariation
CLINVAR
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
29100089 2017
×
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A
Poor school performance
0.100
CausalMutation
CLINVAR
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
29100089 2017
×
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
Poor school performance
0.100
GeneticVariation
CLINVAR
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
29100089 2017
×
Entrez Id: 1630
Gene Symbol: DCC
DCC
Poor school performance
0.100
CausalMutation
CLINVAR
Biallelic mutations in human DCC cause developmental split-brain syndrome.
28250456 2017
×
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1
Poor school performance
0.100
CausalMutation
CLINVAR
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
28356563 2017
×
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
Poor school performance
0.100
GeneticVariation
CLINVAR
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
28940898 2017
×
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
Poor school performance
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: 253738
Gene Symbol: EBF3
EBF3
Poor school performance
0.100
CausalMutation
CLINVAR
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
28017372 2017
×
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2
Poor school performance
0.100
CausalMutation
CLINVAR
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
26795593 2016
×
Entrez Id: 57680
Gene Symbol: CHD8
CHD8
Poor school performance
0.100
CausalMutation
CLINVAR
A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.
26789910 2016
×
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
Poor school performance
0.100
CausalMutation
CLINVAR
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
26805781 2016