Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7737
Gene Symbol: RNF113A
0.010 GeneticVariation disease BEFREE To date, only one pathogenic variant of RNF113A, namely c.901C>T; p.Gln301Ter, has been reported in humans by Tarpey et al. in 2009.Thereafter, Corbett et al. stated that this variant was responsible for an X-linked form of nonphotosensitive trichothiodystrophy associated with profound intellectual disability, microcephaly, partial corpus callosum agenesis, microphallus, and absent or rudimentary testes. 31793730 2020
Entrez Id: 9369
Gene Symbol: NRXN3
0.010 GeneticVariation disease BEFREE Here, we identified a neurexin-3α missense mutation in a compound heterozygous patient diagnosed with profound intellectual disability and epilepsy and systematically interrogated this mutation. 31578233 2019
Entrez Id: 84628
Gene Symbol: NTNG2
0.010 GeneticVariation disease BEFREE In this study, through a combination of exome sequencing and autozygosity mapping, we have identified 16 individuals (from seven unrelated families) with ultra-rare homozygous missense variants in NTNG2; these individuals present with shared features of a neurodevelopmental disorder consisting of global developmental delay, severe to profound intellectual disability, muscle weakness and abnormal tone, autistic features, behavioral abnormalities, and variable dysmorphisms. 31668703 2019
Entrez Id: 128408
Gene Symbol: BHLHE23
0.010 Biomarker disease BEFREE βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. 29861105 2018
Entrez Id: 5727
Gene Symbol: PTCH1
0.010 GeneticVariation disease BEFREE Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability. 30181650 2018
Entrez Id: 10381
Gene Symbol: TUBB3
0.010 Biomarker disease BEFREE βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. 29861105 2018
Entrez Id: 10717
Gene Symbol: AP4B1
0.010 Biomarker disease BEFREE βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. 29861105 2018
Entrez Id: 259232
Gene Symbol: NALCN
0.010 GeneticVariation disease BEFREE Here, we present a 9-year-old male with a homozygous nonsense mutation in NALCN (c.3910C>T, p.Arg1304X) leading to profound intellectual disability, seizures, feeding difficulties, and significant periodic breathing. 29968795 2018
Entrez Id: 8936
Gene Symbol: WASF1
0.010 GeneticVariation disease BEFREE Here, using exome sequencing and whole-genome sequencing, we identified three de novo truncating mutations in WAS protein family member 1 (WASF1) in five unrelated individuals with moderate to profound intellectual disability with autistic features and seizures. 29961568 2018
Entrez Id: 6326
Gene Symbol: SCN2A
0.010 GeneticVariation disease BEFREE We utilized a targeted next generation sequencing (NGS) approach on a girl with early-onset seizures and Rett-like features, including autistic behavior, limited hand function with chorea, and profound intellectual disability, to identify novel missense mutation (c.1270G>A; p.V424M) in the SCN2A gene, which encodes the αII-subunit of the voltage-gated Na<sup>+</sup> channel (Na<sub>v</sub>1.2). 28709814 2017
Entrez Id: 64857
Gene Symbol: PLEKHG2
0.010 GeneticVariation disease BEFREE We identified homozygosity for Arg204Trp mutation in the Rho guanidine exchange factor (RhoGEF) PLEKHG2 gene in five patients with profound mental retardation, dystonia, postnatal microcephaly, and distinct neuroimaging pattern. 26573021 2016
Entrez Id: 7430
Gene Symbol: EZR
0.010 GeneticVariation disease BEFREE Homozygosity mapping and exome sequencing have now revealed the first presumably disease-causing variant in the coding gene EZR in two siblings with a profound intellectual disability. 25504542 2015
Entrez Id: 10479
Gene Symbol: SLC9A6
0.010 GeneticVariation disease BEFREE Mutations of SLC9A6 may cause an X-linked clinical syndrome first described by Christianson in 1999 in which affected males exhibited profound intellectual disability, autism, drug-resistant epilepsy, ophthalmoplegia, mild craniofacial dysmorphism, microcephaly, and ataxia. 26421989 2015
Entrez Id: 50944
Gene Symbol: SHANK1
0.010 GeneticVariation disease BEFREE Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability. 25188300 2014
Entrez Id: 6792
Gene Symbol: CDKL5
0.010 GeneticVariation disease BEFREE This study describes three boys carrying CDKL5 missense mutations and their detailed clinical and EEG data, and indicates that CDKL5 gene mutations may represent a cause of severe or profound mental retardation and early-onset intractable seizures, also in boys. 18809835 2008
Entrez Id: 186
Gene Symbol: AGTR2
0.010 GeneticVariation disease BEFREE The patients with AGTR2 sequence variants had severe/profound mental retardation, epileptic seizures, restlessness, hyperactivity, and disturbed development of speech. 14598163 2004
Entrez Id: 57799
Gene Symbol: RAB40C
0.010 GeneticVariation disease BEFREE The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation. 12145744 2002
Entrez Id: 6638
Gene Symbol: SNRPN
0.010 Biomarker disease BEFREE The molecular investigation of 75 institutionalized individuals with severe to profound mental retardation resulted in the detection of 1 case with an abnormal methylation pattern of the SNRPN gene, corresponding to AS. 12215253 2002
Entrez Id: 282808
Gene Symbol: RAB40AL
0.010 Biomarker disease BEFREE We speculate that disruption of RLGP was responsible for the patient's profound mental retardation. 12145744 2002
Entrez Id: 952
Gene Symbol: CD38
0.010 Biomarker disease BEFREE A girl with a 46,X,t(X;21) (q13.3;p11.1) karyotype presented with skin redundancy, especially in the neck, prominent occiput and micrognathia, and later developed hypotonia, hypopigmentation, sparse scalp hair, and profound mental retardation characteristic of Menkes disease. 9788559 1998
Entrez Id: 2481
Gene Symbol: FRAXE
0.010 GeneticVariation disease BEFREE These results suggest that FRAXE GCC-repeat expansion is not a common cause of developmental disability in institutionalized persons with mild to profound mental retardation. 8844096 1996
Entrez Id: 57680
Gene Symbol: CHD8
0.300 Biomarker disease CTD_human A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8. 30670789 2019
Entrez Id: 1630
Gene Symbol: DCC
0.300 Biomarker disease CTD_human Biallelic mutations in human DCC cause developmental split-brain syndrome. 28250456 2017
Entrez Id: 8364
Gene Symbol: H4C3
0.300 Biomarker disease CTD_human Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control. 28920961 2017
Entrez Id: 80155
Gene Symbol: NAA15
0.300 Biomarker disease CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017