Syndromic Intellectual Disability

MalaCards integrated aliases for Syndromic Intellectual Disability:

Classifications:

Diseases in the Syndromic Intellectual Disability family:

Rare Syndromic Intellectual Disability

Diseases related to Syndromic Intellectual Disability via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 257)

#	Related Disease	Score	Top Affiliating Genes
1	autosomal dominant non-syndromic intellectual disability	34.5	STXBP1 POGZ MED13L KAT6A DYRK1A ATRX
2	non-syndromic intellectual disability	34.4	STXBP1 MEF2C IQSEC2 GRIA1 DLG3 ARX
3	autosomal dominant non-syndromic intellectual disability 32	34.4	KAT6A BRPF1
4	rare genetic syndromic intellectual disability	34.3	TAF6 KAT6A
5	non-syndromic x-linked intellectual disability	33.7	IQSEC2 DLG3 CNKSR2 ARX
6	syndromic x-linked intellectual disability	32.9	IQSEC2 CNKSR2 ARX
7	partington x-linked mental retardation syndrome	32.4	DLG3 ARX
8	christianson syndrome	32.3	KANSL1 CNKSR2
9	alacrima, achalasia, and mental retardation syndrome	31.8	STXBP1 MED13L IQSEC2 DYRK1A DLG3 CTNNB1
10	microcephaly	31.3	TAF6 STXBP1 POGZ KAT6A EIF2S3 DYRK1A
11	pitt-hopkins syndrome	30.9	MEF2C KANSL1 IQSEC2
12	autism	30.8	STXBP1 POGZ MEF2C MAPT IQSEC2 GRIA1
13	epilepsy	30.8	STXBP1 MEF2C MAPT KANSL1 GRIA1 ARX
14	strabismus	30.7	STXBP1 POGZ MED13L CTNNB1
15	ohdo syndrome	30.6	MED13L KAT6A BRPF1
16	opitz-kaveggia syndrome	30.6	MED13L IQSEC2 DLG3
17	west syndrome	30.5	STXBP1 IQSEC2 DLG3 ARX
18	rett syndrome	30.4	STXBP1 MEF2C GRIA1 ATRX
19	autosomal recessive non-syndromic intellectual disability	12.6
20	autosomal dominant non-syndromic intellectual disability 1	12.4
21	autosomal dominant non-syndromic intellectual disability 2	12.4
22	autosomal dominant non-syndromic intellectual disability 3	12.4
23	autosomal dominant non-syndromic intellectual disability 4	12.4
24	autosomal dominant non-syndromic intellectual disability 5	12.4
25	autosomal dominant non-syndromic intellectual disability 6	12.4
26	autosomal dominant non-syndromic intellectual disability 8	12.4
27	autosomal dominant non-syndromic intellectual disability 9	12.4
28	autosomal dominant non-syndromic intellectual disability 19	12.4
29	autosomal dominant non-syndromic intellectual disability 24	12.4
30	autosomal dominant non-syndromic intellectual disability 27	12.4
31	autosomal dominant non-syndromic intellectual disability 44	12.4
32	bain type of x-linked syndromic intellectual disability	12.4
33	syngap1-related non-syndromic intellectual disability	12.4
34	multiple congenital anomalies/dysmorphic syndrome-intellectual disability	12.2
35	non-specific syndromic intellectual disability	12.2
36	rare syndromic intellectual disability	12.2
37	mental retardation, autosomal dominant 7	11.9
38	mental retardation, autosomal dominant 21	11.9
39	mental retardation with language impairment and with or without autistic features	11.8
40	mental retardation, autosomal dominant 22	11.7
41	mental retardation, autosomal dominant 10	11.7
42	mental retardation, autosomal dominant 11	11.7
43	mental retardation, autosomal dominant 13	11.7
44	mental retardation, autosomal dominant 18	11.7
45	helsmoortel-van der aa syndrome	11.7
46	mental retardation, autosomal dominant 29	11.7
47	mental retardation, autosomal dominant 30	11.7
48	mental retardation, autosomal dominant 33	11.7
49	mental retardation, autosomal dominant 35	11.7
50	mental retardation, autosomal dominant 36	11.7

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic	Completed	NCT02136849

Genetic tests related to Syndromic Intellectual Disability:

#	Genetic test	Affiliating Genes
1	Syndromic Intellectual Disability 29

Articles related to Syndromic Intellectual Disability:

(show top 50) (show all 170)

#	Title	Authors	PMID	Year
1	HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome. 61	Reichert SC...Lewandowski R	32335897	2020
2	A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability. 61	Hamdan N...Chouery E	32578875	2020
3	ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum. 61	Yates TM...Balasubramanian M	32097528	2020
4	De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features. 61	Lehalle D...Faivre L	32409512	2020
5	A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family. 61	Binaafar S...Garshasbi M	31978613	2020
6	Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies. 61	Tejada MI...Ibarluzea N	31898314	2020
7	De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β-catenin signaling. 61	Liu X...Yu Y	31981384	2020
8	A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability. 61	Maldziene Z...Preiksaitiene E	32299451	2020
9	Exons deletion of CNKSR2 gene identified in X-linked syndromic intellectual disability. 61	Daoqi M...Shiyue M	32245427	2020
10	The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome. 61	Larcher L...Whalen S	31580924	2020
11	Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature. 61	Assoum M...Faivre L	31953988	2020
12	A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia. 61	Kurihara M...Tsuji S	31813911	2020
13	Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability. 61	Li L...Yang XJ	31794431	2020
14	[First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene]. 61	Sanchez-Soler MJ...Guillen-Navarro E	31147255	2020
15	Autosomal dominant inheritance in a recently described ZMIZ1-related neurodevelopmental disorder: Case report of siblings and an affected parent. 61	Latchman K...Tekin M	31833199	2020
16	Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum. 61	Urreizti R...Balcells S	32041641	2020
17	Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31. 61	Labonne JDJ...Kim HG	31963867	2020
18	MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype. 61	Giliberti A...Mari F	30735726	2020
19	Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. 61	Van Bergen NJ...Christodoulou J	31794024	2020
20	Intellectual Disability, Falls and Gait Disturbances: A Misdiagnosis. 61	Lorenzo Villalba N...Zulfiqar AA	32206646	2020
21	Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer. 61	Yan K...Yang XJ	32010779	2020
22	Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability. 61	Thomas E...Scott DA	31687266	2019
23	Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family. 61	Lindholm Carlstrom E...Feuk L	31694657	2019
24	A genome-wide DNA methylation signature for SETD1B-related syndrome. 61	Krzyzewska IM...Mannens MMAM	31685013	2019
25	Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants. 61	Lecoquierre F...Thauvin-Robinet C	31036916	2019
26	A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy. 61	Lauritano A...Taglialatela M	31440727	2019
27	Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females. 61	Scala M...Capra V	30936465	2019
28	Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases. 61	Soares AR...Fortuna AM	31445533	2019
29	Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females. 61	Jackson MR...Shoubridge C	31439632	2019
30	Homozygous variants in the gene SCAPER cause syndromic intellectual disability. 61	Kahrizi K...Winter J	31069901	2019
31	Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome. 61	Carlston CM...Botto LD	30773818	2019
32	Female-restricted syndromic intellectual disability in a patient from Thailand. 61	Sinthuwiwat T...Shotelersuk V	30828969	2019
33	Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report. 61	Diaz-Ordonez L...Pachajoa H	31182893	2019
34	De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability. 61	Nicola P...Clayton-Smith J	30734472	2019
35	Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures. 61	Nakashima M...Matsumoto N	30655572	2019
36	Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. 61	Cogne B...Campeau PM	30827496	2019
37	The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case. 61	Yoshikawa K...Kusunoki S	30582020	2019
38	LIMK2-1 is a Hominidae-Specific Isoform of LIMK2 Expressed in Central Nervous System and Associated with Intellectual Disability. 61	Tastet J...Benedetti H	30594563	2019
39	De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. 61	Reynhout S...Vissers LELM	30735662	2019
40	A novel CUL4B splice site variant in a young male exhibiting less pronounced features. 61	Nakamura Y...Saitoh S	31645981	2019
41	CDK13-related disorder. 61	Hamilton MJ...Suri M	30904094	2019
42	Mutations of ARX and non-syndromic intellectual disability in Chinese population. 61	Wu Y...Gao X	30255221	2019
43	Novel Compound Heterozygous Mutations in TTI2 Cause Syndromic Intellectual Disability in a Chinese Family. 61	Wang R...Zhang X	31737043	2019
44	A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report. 61	Qiao F...Xu Z	31803247	2019
45	De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. 61	Reynhout S...Vissers LELM	30595372	2019
46	A cross sectional study to evaluate the oral health status of children with intellectual disabilities in the National Capital Region of India (Delhi-NCR). 61	Makkar A...Sheoran N	30338591	2019
47	Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism. 61	Kim HG...Kim CH	31649809	2019
48	A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency. 61	van Diepen L...Kuss AW	30089820	2018
49	Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation. 61	Wang J...Wen Y	30376817	2018
50	Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. 61	Santos-Cortez RLP...Leal SM	30167849	2018

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KAT6A	Lysine Acetyltransferase 6A	Protein Coding	411.75	Pathogenic 6 DISEASES inferred 15 GeneCards inferred via : Variants (show sections)
2	TAF6	TATA-Box Binding Protein Associated Factor 6	Protein Coding	406.89	Pathogenic/Likely pathogenic 6 GeneCards inferred via : Variants (show sections)
3	MAPT	Microtubule Associated Protein Tau	Protein Coding	13.52	DISEASES inferred 15 GeneCards inferred via : Variants (show sections)
4	ARX	Aristaless Related Homeobox	Protein Coding	13.16	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
5	KANSL1	KAT8 Regulatory NSL Complex Subunit 1	Protein Coding	13.14	DISEASES inferred 15 GeneCards inferred via : Variants (show sections)
6	CTNNB1	Catenin Beta 1	Protein Coding	12.78	DISEASES inferred 15 GeneCards inferred via : Variants (show sections)
7	DLG3	Discs Large MAGUK Scaffold Protein 3	Protein Coding	12.57	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
8	EIF2S3	Eukaryotic Translation Initiation Factor 2 Subunit Gamma	Protein Coding	12.26	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
9	GRIA1	Glutamate Ionotropic Receptor AMPA Type Subunit 1	Protein Coding	12.23	DISEASES inferred 15 GeneCards inferred via : Variants (show sections)
10	DYRK1A	Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A	Protein Coding	12.19	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
11	IQSEC2	IQ Motif And Sec7 Domain ArfGEF 2	Protein Coding	11.73	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
12	CNKSR2	Connector Enhancer Of Kinase Suppressor Of Ras 2	Protein Coding	11.62	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
13	STXBP1	Syntaxin Binding Protein 1	Protein Coding	11.56	DISEASES inferred 15 GeneCards inferred via : Variants (show sections)
14	ATRX	ATRX Chromatin Remodeler	Protein Coding	11.55	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
15	POGZ	Pogo Transposable Element Derived With ZNF Domain	Protein Coding	11.19	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
16	SNRPA	Small Nuclear Ribonucleoprotein Polypeptide A	Protein Coding	11	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
17	NONO	Non-POU Domain Containing Octamer Binding	Protein Coding	10.99	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
18	MED13L	Mediator Complex Subunit 13L	Protein Coding	10.91	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
19	BRPF1	Bromodomain And PHD Finger Containing 1	Protein Coding	10.82	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
20	MEF2C	Myocyte Enhancer Factor 2C	Protein Coding	10.74	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
21	TELO2	Telomere Maintenance 2	Protein Coding	10.71	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
22	ZNF407	Zinc Finger Protein 407	Protein Coding	10.54	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
23	CDK5	Cyclin Dependent Kinase 5	Protein Coding	10.53	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
24	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	10.44	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
25	DDX3X	DEAD-Box Helicase 3 X-Linked	Protein Coding	10.4	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
26	CHAMP1	Chromosome Alignment Maintaining Phosphoprotein 1	Protein Coding	10.39	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
27	TRAPPC4	Trafficking Protein Particle Complex 4	Protein Coding	10.37	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
28	STAG1	Stromal Antigen 1	Protein Coding	10.32	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
29	ZNF462	Zinc Finger Protein 462	Protein Coding	10.3	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
30	TCF4	Transcription Factor 4	Protein Coding	10.28	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
31	SETD1B	SET Domain Containing 1B, Histone Lysine Methyltransferase	Protein Coding	10.26	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
32	TUSC3	Tumor Suppressor Candidate 3	Protein Coding	10.16	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
33	TRRAP	Transformation/Transcription Domain Associated Protein	Protein Coding	10.08	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
34	SETD5	SET Domain Containing 5	Protein Coding	10.07	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
35	SCAPER	S-Phase Cyclin A Associated Protein In The ER	Protein Coding	10.03	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
36	MED25	Mediator Complex Subunit 25	Protein Coding	9.96	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
37	PHF21A	PHD Finger Protein 21A	Protein Coding	9.94	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
38	DCPS	Decapping Enzyme, Scavenger	Protein Coding	9.86	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
39	CLCN4	Chloride Voltage-Gated Channel 4	Protein Coding	9.65	DISEASES inferred 15 GeneCards inferred via : Publications (show sections)
40	FGD1	FYVE, RhoGEF And PH Domain Containing 1	Protein Coding	8.02	DISEASES inferred 15
41	LATS1	Large Tumor Suppressor Kinase 1	Protein Coding	7.95	DISEASES inferred 15
42	SAV1	Salvador Family WW Domain Containing Protein 1	Protein Coding	7.94	DISEASES inferred 15
43	WWC1	WW And C2 Domain Containing 1	Protein Coding	7.85	DISEASES inferred 15
44	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	7.75	DISEASES inferred 15
45	SLC9A6	Solute Carrier Family 9 Member A6	Protein Coding	7.71	DISEASES inferred 15
46	PQBP1	Polyglutamine Binding Protein 1	Protein Coding	7.63	DISEASES inferred 15
47	H2AC18	H2A Clustered Histone 18	Protein Coding	7.57	DISEASES inferred 15 15
48	MIR483	MicroRNA 483	RNA Gene	7.5	DISEASES inferred 15 15
49	H2AC12	H2A Clustered Histone 12	Protein Coding	7.42	DISEASES inferred 15
50	YAP1	Yes1 Associated Transcriptional Regulator	Protein Coding	7.31	DISEASES inferred 15

ClinVar genetic disease variations for Syndromic Intellectual Disability:

⁶ (show top 50) (show all 146) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	KAT6A	NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer)	deletion	Pathogenic	162616	rs786200959	8:41795009-41795010	8:41937491-41937492
2	KAT6A	NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs)	duplication	Pathogenic	180678	rs786200952	8:41791858-41791859	8:41934340-41934341
3	TAF6	NM_139315.3(TAF6):c.212T>C (p.Ile71Thr)	SNV	Pathogenic/Likely pathogenic	180204	rs374993554	7:99711522-99711522	7:100113899-100113899
4	PTH2R	NM_005048.4(PTH2R):c.473C>T (p.Ser158Phe)	SNV	Likely pathogenic	428590	rs1553546045	2:209307150-209307150	2:208442425-208442425
5	PHIP	NM_017934.7(PHIP):c.3892C>T (p.Arg1298Ter)	SNV	Likely pathogenic	431155	rs759380520	6:79664960-79664960	6:78955243-78955243
6	FAM160B1	NM_020940.4(FAM160B1):c.115G>T (p.Glu39Ter)	SNV	Likely pathogenic	633777		10:116590680-116590680	10:114830921-114830921
7	KANSL1	NM_001193466.2(KANSL1):c.1857G>T (p.Arg619=)	SNV	Conflicting interpretations of pathogenicity	205737	rs191986791	17:44128062-44128062	17:46050696-46050696
8	KANSL1	NM_001193466.2(KANSL1):c.1124C>T (p.Ser375Leu)	SNV	Conflicting interpretations of pathogenicity	205782	rs142696045	17:44248386-44248386	17:46171020-46171020
9	KANSL1	NM_001193466.2(KANSL1):c.296A>G (p.Gln99Arg)	SNV	Conflicting interpretations of pathogenicity	205766	rs754727332	17:44249214-44249214	17:46171848-46171848
10	KANSL1	NM_001193466.2(KANSL1):c.2441C>G (p.Thr814Ser)	SNV	Conflicting interpretations of pathogenicity	323770	rs757031050	17:44116004-44116004	17:46038638-46038638
11	KANSL1	NM_001193466.2(KANSL1):c.2256C>T (p.Asp752=)	SNV	Conflicting interpretations of pathogenicity	323773	rs760224197	17:44116529-44116529	17:46039163-46039163
12	KANSL1	NM_001193466.2(KANSL1):c.1831G>A (p.Val611Ile)	SNV	Conflicting interpretations of pathogenicity	323778	rs202150313	17:44143920-44143920	17:46066554-46066554
13	KANSL1	NM_001193466.2(KANSL1):c.701T>C (p.Val234Ala)	SNV	Conflicting interpretations of pathogenicity	323788	rs199948200	17:44248809-44248809	17:46171443-46171443
14	KANSL1	NM_001193466.2(KANSL1):c.611G>T (p.Gly204Val)	SNV	Uncertain significance	323792	rs766643723	17:44248899-44248899	17:46171533-46171533
15	KANSL1	NM_001193466.2(KANSL1):c.2287G>T (p.Val763Leu)	SNV	Uncertain significance	323772	rs781594360	17:44116498-44116498	17:46039132-46039132
16	KANSL1	NM_001193466.2(KANSL1):c.1162A>G (p.Ile388Val)	SNV	Uncertain significance	323784	rs767398590	17:44248348-44248348	17:46170982-46170982
17	KANSL1	NM_001193466.2(KANSL1):c.*1434T>C	SNV	Uncertain significance	323733	rs886053059	17:44107408-44107408	17:46030042-46030042
18	KANSL1	NM_001193466.2(KANSL1):c.*608C>G	SNV	Uncertain significance	323755	rs886053067	17:44108234-44108234	17:46030868-46030868
19	KANSL1	NM_001193466.2(KANSL1):c.*637T>G	SNV	Uncertain significance	323753	rs886053066	17:44108205-44108205	17:46030839-46030839
20	KANSL1	NM_001193466.2(KANSL1):c.3091-15C>A	SNV	Uncertain significance	323763	rs565665710	17:44109084-44109084	17:46031718-46031718
21	KANSL1	NM_001193466.2(KANSL1):c.1940A>G (p.Glu647Gly)	SNV	Uncertain significance	323777	rs886053068	17:44127979-44127979	17:46050613-46050613
22	KANSL1	NM_001193466.2(KANSL1):c.*1287G>T	SNV	Uncertain significance	323740	rs886053064	17:44107555-44107555	17:46030189-46030189
23	KANSL1	NM_001193466.2(KANSL1):c.*1551del	deletion	Uncertain significance	323730	rs767830420	17:44107291-44107291	17:46029925-46029925
24	KANSL1	NM_001193466.2(KANSL1):c.*28_*31ACTA[1]	short repeat	Uncertain significance	323761	rs767896466	17:44108807-44108810	17:46031441-46031444
25	KANSL1	NM_001193466.2(KANSL1):c.1676A>G (p.His559Arg)	SNV	Uncertain significance	323779	rs886053069	17:44144075-44144075	17:46066709-46066709
26	KANSL1	NM_001193466.2(KANSL1):c.1432-4G>A	SNV	Uncertain significance	323782	rs749329088	17:44159912-44159912	17:46082546-46082546
27	KANSL1	NM_001193466.2(KANSL1):c.608G>A (p.Gly203Glu)	SNV	Uncertain significance	323793	rs759522694	17:44248902-44248902	17:46171536-46171536
28	KANSL1	NM_001193466.2(KANSL1):c.-279G>A	SNV	Uncertain significance	323806	rs886053071	17:44269974-44269974	17:46192608-46192608
29	KANSL1	NM_001193466.2(KANSL1):c.*1433A>G	SNV	Uncertain significance	323734	rs886053060	17:44107409-44107409	17:46030043-46030043
30	KANSL1	NM_001193466.2(KANSL1):c.*1354dup	duplication	Uncertain significance	323735	rs67641084	17:44107487-44107488	17:46030121-46030122
31	KANSL1	NM_001193466.2(KANSL1):c.*816C>T	SNV	Uncertain significance	323750	rs886053065	17:44108026-44108026	17:46030660-46030660
32	KANSL1	NM_001193466.2(KANSL1):c.431G>A (p.Ser144Asn)	SNV	Uncertain significance	323795	rs886053070	17:44249079-44249079	17:46171713-46171713
33	KANSL1	NM_001193466.2(KANSL1):c.*1350A>C	SNV	Uncertain significance	323737	rs886053062	17:44107492-44107492	17:46030126-46030126
34	KANSL1	NM_001193466.2(KANSL1):c.*1306C>G	SNV	Uncertain significance	323739	rs886053063	17:44107536-44107536	17:46030170-46030170
35	KANSL1	NM_001193466.2(KANSL1):c.*1234_*1235dup	duplication	Uncertain significance	323742	rs140510364	17:44107606-44107607	17:46030240-46030241
36	KANSL1	NM_001193466.2(KANSL1):c.*1022C>G	SNV	Uncertain significance	323747	rs748062988	17:44107820-44107820	17:46030454-46030454
37	KANSL1	NM_001193466.2(KANSL1):c.*954C>G	SNV	Uncertain significance	323748	rs150500194	17:44107888-44107888	17:46030522-46030522
38	KANSL1	NM_001193466.2(KANSL1):c.*1103dup	duplication	Uncertain significance	323744	rs142756815	17:44107738-44107739	17:46030372-46030373
39	KANSL1	NM_001193466.2(KANSL1):c.2547G>A (p.Gln849=)	SNV	Uncertain significance	323768	rs763362339	17:44111646-44111646	17:46034280-46034280
40	KANSL1	NM_001193466.2(KANSL1):c.1945C>G (p.His649Asp)	SNV	Uncertain significance	323776	rs759914921	17:44127974-44127974	17:46050608-46050608
41	KANSL1	NM_001193466.2(KANSL1):c.1653-6G>A	SNV	Uncertain significance	323780	rs369261388	17:44144104-44144104	17:46066738-46066738
42	KANSL1	NM_001193466.2(KANSL1):c.1166C>T (p.Ala389Val)	SNV	Uncertain significance	323783	rs368394693	17:44248344-44248344	17:46170978-46170978
43	KANSL1	NM_001193466.2(KANSL1):c.*1520dup	duplication	Uncertain significance	323731	rs67801660	17:44107321-44107322	17:46029955-46029956
44	KANSL1	NM_015443.3(KANSL1):c.-90+19C>G	SNV	Uncertain significance	369214	rs1057516026	17:44270170-44270170	17:46192804-46192804
45	KANSL1 , MAPT	NM_016835.4(MAPT):c.*3810G>A	SNV	Likely benign	323724	rs140613804	17:44105347-44105347	17:46027981-46027981
46	KANSL1 , MAPT	NM_016835.4(MAPT):c.*1465C>T	SNV	Likely benign	323679	rs189665411	17:44103002-44103002	17:46025636-46025636
47	KANSL1	NM_001193466.2(KANSL1):c.688A>G (p.Asn230Asp)	SNV	Likely benign	205774	rs34756740	17:44248822-44248822	17:46171456-46171456
48	KANSL1 , MAPT	NM_001193466.2(KANSL1):c.*34_*37del	deletion	Likely benign	323760	rs373668834	17:44108805-44108808	17:46031439-46031442
49	KANSL1 , MAPT	NM_001193466.2(KANSL1):c.*1028T>C	SNV	Likely benign	323745	rs375427074	17:44107814-44107814	17:46030448-46030448
50	KANSL1 , MAPT	NM_001193466.2(KANSL1):c.*626T>C	SNV	Likely benign	323754	rs533537317	17:44108216-44108216	17:46030850-46030850

Pathways related to Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Neuroscience 4	11.89	STXBP1 MAPT GRIA1 DYRK1A DLG3
2	Protein-protein interactions at synapses 65 Show member pathways Interactions of neurexins and neuroligins at synapses 65	11.61	STXBP1 GRIA1 DLG3
3	Pathways Affected in Adenoid Cystic Carcinoma 1	11.15	KAT6A KANSL1 ATRX
4	Brain-Derived Neurotrophic Factor (BDNF) signaling pathway 1	11.08	MEF2C MAPT GRIA1 CTNNB1
5	SALM protein interactions at the synapses 65	10.58	GRIA1 DLG3