OVERVIEW

Global developmental delay disorders affect about 3% of the general population. They are characterized by a significant intellectual disability which is defined as an IQ <70. Other symptoms include a significant delay in gross and fine motor, speech and language, cognition, personal and social development or activities of daily living. Genetic factors are responsible for up to 40% of the cases of intellectual disability. While males are more frequently affected due to X-linked genes and chromosomal abnormalities are responsible for 25% of cases. Additionally, de novo mutations appear to contribute to a significant number of cases of severe intelligence impairment. Early identification of infants and young children can help to prevent the condition from persisting or worsening over time.

We offer comprehensive and syndrome-specific panels testing for global developmental delay disorders. The test can offer a molecular genetic diagnosis of a global developmental delay disorder that is observed or predicted in your child.

IMPORTANCE OF GETTING TESTED

If your child shows symptoms of a global developmental delay disorder, identifying the cause can help to take therapeutic intervention and improve the outcome of the disorder. Additionally, testing can help to take informed family planning decisions. Our genetic counsellors can provide medical advice.

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You have a child who has not met
their developmental milestones

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You have a child
with autism (spectrum) disorder

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You have a child
with dysmorphic features

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You have a child that shows symptoms
of a global developmental delay disorder
and need a differential diagnosis

POSSIBLE OUTCOMES OF THE TEST

A molecular genetic diagnostic report outlining the results of the sequencing analysis is provided. Changes in DNA sequences (variants) can be detrimental and lead to the development of a cardiac or aortic disorder, including asymptomatic disorders that develop later in life. We will report pathogenic and likely pathogenic variants as well as variants of unknown significance.
Pathogenic and likely pathogenic variants mean the genetic cause of the observed symptoms has been identified and may help determine the right treatment and management plan.
Variants of unknown significance means there was not enough evidence to classify the variant as either pathogenic or neutral. Annual variant reclassification and testing family members is recommended.
It is important to note that a negative result does not guarantee the absence of a disorder or that the disorder does not have a genetic cause. Genetic testing is an evolving field and may not detect all variants or there may not currently be enough evidence to classify all variants that lead to an inherited disease.

MEDICAL GENETIC COUNSELLING

We provide expert medical genetic counselling as part of a genetic testing journey. Genetic counselling is a process of communication that supports patients and their relatives before and after genetic testing. It is educational, impartial and nondirective. Prior to any genetic test, genetic counsellors will obtain a detailed family history, explain the method of testing that will be used, its risks and benefits, the limitations of the diagnosis and the implications of making a genetic diagnosis (Elliott and Friedman, 2018, Nat Rev Genet 19:735).

Upon receiving the genetic test results, genetic counselling can help the specialist physician and the patient to interpret them. They can be advised of the consequences of the results including the probability of developing the genetic disorder or passing it on to children, as well as ways to prevent, avoid or reduce these risks (Yang and Kim, 2018, Ann Lab Med 38:291). Our goal of counselling is to provide the patient with greater knowledge and thus, a better understanding of the results and the ability to make a more informed decision.

ACCEPTED MATERIAL

1 ml EDTA Blood

TURNAROUND TIME

15-25 working days

TECHNOLOGY

DNA is isolated and next generation sequencing is performed on all coding exons and conserved intronic regions. Single base pair changes, small deletions and duplications and copy number variants (CNV) are identified. Sequencing runs result in a Quality Score of >30 (accuracy >99.9%) in at least 75% of all bases with a coverage of >20-fold. CNV detection sensitivity is 76.99% and precision is 62.59% (with GC limitation between 0.4 and 0.6 per target sensitivity is 77.04% and precision is 84.10%). Variant classification is performed following ACMG guidelines (Richards et al. 2015, Genet Med 17:405; Kearney et al. 2011, Genet Med 13:680).

Test Methodology
Test Methodology
Sequencing

Next generation
sequencing (Illumina)

Enrichment

Twist Human Core
Exome plus Ref Seq
Spikeln

SNV and CNV data anlaysis

Illumina DRAGEN
Bio-IT Platform

Data Evaluation

VarSeq by
GoldenHelix

Reference Genome

hg38, NCBI GR38

Quality Criteria

>30 (precision >99,9%)
in min. 75% of bases

SNV detection sensitivity

99.92-99.93%; confirmation of reported SNV with Sanger
sequencing, data analysis with
SeqPilot

Classification of variants

Richards et al. 2015, Genet Med
17:405; Ellard et al. “ACGS Best
Practice Guidelines for Variant
Classification 2020″

in silico algorithms

MaxEntScan,
SpliceSiteFinder-like,
REVEL

Databases

HGMD Professional
release, ClinVar,
gnomAD

OUR TESTS

AUTISM core panel

Genes: CDKL5, FOXP1, MECP2, PTEN, TCF4, UBE3A, ZEB2

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AUTISM extended panel

Genes: ALDH5A1, AP1S2, ARX, ATRX, AUTS2, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNOT3, CNTNAP2, DHCR7, DPP6, EHMT1, FGD1, FOXG1, FOXP1, FOXP2, GNAI1, GRIN2B, HPRT1, KDM5C, L1CAM, MBD5, MECP2, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, OPHN1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAI1, RPL10, SCN1A, SHANK2, SHANK3, SLC9A6, SMARCB1, SMC1A, SMC3, TBR1, TCF4, TMLHE, TSC1, TSC2, UBE2A, UBE3A, VPS13B, ZEB2

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CHARGE SYNDROME

Genes: CHD7

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COFFIN-LOWRY SYNDROME

Genes: RPS6KA3

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COFFIN-SIRIS SYNDROME

Genes: ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11, SOX4

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CONGENITAL DISORDERS OF GLYCOSYLATION

Genes: ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, B4GALT1, CAD, CCDC115, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DOLK, DPAGT1, DPM1, DPM2, DPM3, MGAT2, MOGS, MPDU1, MPI, NGLY1, PGM1, PMM2, RFT1, SLC35A1, SLC35A2, SLC35C1, SLC39A8, SRD5A3, SSR4, STT3A, STT3B, TMEM165, TMEM199, TUSC3

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CORNELIA DE LANGE SYNDROME

Genes: ANKRD11, BRD4, HDAC8, NIPBL, RAD21, SMC1A, SMC3

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CRI DU CHAT SYNDROME

Genes: na

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DEVELOPMENTAL DISORDERS PANEL

Genes: AARS, ABCC9, ABCD1, ACSL4, ACTB, ACTG1, ADAT3, ADNP, AFF2, AGTR2, AHDC1, AIFM1, AKT3, ALDH5A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMER1, AMPD2, ANKLE2, ANKRD11, AP1S2, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARX, ASH1L, ASPA, ASPM, ATP6AP2, ATP7A, ATRX, AUTS2, B4GALT1, BCAP31, BCOR, BDNF, BRAF, BRD4, BRWD3, C12orf57, CA8, CACNA1C, CACNG2, CAD, CAMK2A, CAMK2B, CASK, CBL, CC2D1A, CCDC115, CCDC22, CCND2, CDH15, CDK13, CDK5RAP2, CDK6, CDKL5, CDKN1C, CENPE, CENPF, CENPJ, CEP135, CEP152, CHAMP1, CHD4, CHD7, CHD8, CHMP1A, CIC, CIT, CLCN4, CLIC2, CLP1, CLTC, CNKSR2, CNOT3, CNTNAP2, COASY, COG1, COG4, COG5, COG6, COG7, COG8, COL4A3BP, COPB2, CRADD, CRBN, CREBBP, CSNK2A1, CTCF, CTNNB1, CUL4B, DBH, DCX, DDC, DDOST, DDX3X, DEAF1, DHCR24, DHCR7, DIS3L2, DKC1, DLG3, DNAJC12, DNM1, DNMT3A, DOCK7, DOCK8, DOLK, DONSON, DPAGT1, DPF2, DPM1, DPM2, DPM3, DPP6, DVL1, DVL3, DYNC1H1, DYRK1A, EBP, EED, EEF1A2, EHMT1, EIF2B5, EIF2S3, EP300, EPB41L1, EXOSC3, EXOSC8, EXOSC9, EZH2, FANCB, FGD1, FLNA, FMN2, FMR1, FOXG1, FOXP1, FOXP2, FRMPD4, FTSJ1, GABRA1, GALT, GATAD2B, GCDH, GCH1, GDI1, GFAP, GIMAP1, GK, GLI3, GNAI1, GNAO1, GNB1, GPAA1, GPC3, GPKOW, GPSM2, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, HCCS, HCFC1, HCN1, HDAC4, HDAC6, HDAC8, HEPACAM, HERC1, HIST1H1E, HIVEP2, HMGB3, HNRNPH2, HPRT1, HRAS, HSD17B10, HUWE1, IDS, IGBP1, IKBKG, IL1RAPL1, IMPA1, IQSEC2, ITPA, KANSL1, KAT6A, KAT6B, KATNB1, KCNA2, KCNB1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KDM5C, KDM6A, KIF14, KIF1A, KIF4A, KIF7, KIRREL3, KLF8, KLHL15, KMT2A, KMT2D, KMT5B, KNL1, KPTN, KRAS, L1CAM, LAMP2, LAS1L, LINS1, LZTR1, MACF1, MAGT1, MAN1B1, MAOA, MAP2K2, MBD5, MBOAT7, MBTPS2, MCPH1, MECP2, MED12, MED13L, MED23, MEF2C, METTL23, MFSD2A, MGAT2, MID1, MID2, MLC1, MOGS, MPDU1, MPI, MRAS, MSL3, MTM1, MTOR, MYT1L, NAA10, NAA15, NALCN, NCAPD2, NCAPD3, NCAPH, NDE1, NDP, NDST1, NDUFA1, NEXMIF, NFIB, NFIX, NGLY1, NHS, NIPBL, NLGN3, NLGN4X, NONO, NRAS, NRXN1, NSD1, NSDHL, NSUN2, NTNG1, NUP37, NUS1, NXF5, NXN, OCRL, OFD1, OGT, OPHN1, OTC, PACS1, PAFAH1B1, PAK3, PCBD1, PCDH11X, PCDH19, PCLO, PCNT, PDHA1, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PHC1, PHF6, PHF8, PIGA, PIGB, PIGC, PIGG, PIGH, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIGY, PIK3R2, PLP1, PMM2, PNKP, POGZ, PORCN, PPP1CB, PPP2CA, PPP2R1A, PPP2R5D, PQBP1, PRPS1, PRSS12, PTCH1, PTCH2, PTCHD1, PTEN, PTPN11, PTS, PURA, QDPR, RAB39B, RAB40AL, RAC1, RAD21, RAF1, RAI1, RARS2, RASA2, RBM10, RBMX, RELN, RFT1, RHEB, RIT1, RLIM, RNF113A, RNF135, ROR2, RPL10, RPL11, RPL15, RPL18, RPL26, RPL27, RPL35, RPL35A, RPL5, RPS10, RPS15A, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS6KA3, RPS7, RRAS, SASS6, SATB2, SCN1A, SCN2A, SCN8A, SCN9A, SEPSECS, SET, SETBP1, SETD2, SETD5, SHANK2, SHANK3, SHOC2, SHROOM4, SIK1, SLC12A5, SLC13A5, SLC16A2, SLC18A2, SLC25A22, SLC25A46, SLC25A5, SLC35A1, SLC35A2, SLC35C1, SLC39A8, SLC6A17, SLC6A3, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SMC1A, SMC3, SMS, SNX14, SON, SOS1, SOS2, SOX11, SOX3, SOX4, SOX5, SPR, SPTAN1, SRCAP, SRD5A3, SRPX2, SSR4, ST3GAL3, STAG1, STAG2, STIL, STT3A, STT3B, STXBP1, SUFU, SYN1, SYNGAP1, SYP, SZT2, TAF1, TAF2, TBC1D23, TBC1D24, TBC1D7, TBCD, TBCK, TBL1XR1, TBR1, TCF4, TECR, TH, THOC2, TIMM8A, TLK2, TM4SF20, TMCO1, TMEM165, TMEM199, TMLHE, TMTC3, TOE1, TPH1, TPH2, TRAPPC9, TRIO, TRIP12, TRRAP, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSPAN7, TSR2, TTI2, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TUSC3, UBE2A, UBE3A, UPF3B, USP27X, USP9X, VPS13B, VPS53, VRK1, WAC, WASHC5, WDFY3, WDR45, WDR62, WNT5A, WWOX, ZBTB18, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZEB2, ZMYM3, ZMYND11, ZNF335, ZNF41, ZNF674, ZNF711, ZNF81

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DIGEORGE SYNDROME

Genes: na

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DOUBLE Y SYNDROME (47,XYY SYNDROME)

Genes: na

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DOWN SYNDROME (TRISOMY 21)

Genes: na

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EDWARDS SYNDROME (TRISOMY 18)

Genes: na

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FRAGILE X SYNDROME

Genes: FMR1

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GLYCOSYLPHOSPHATIDYLINOSITOL (GPI) BIOSYNTHESIS DEFECT

Genes: GPAA1, PGAP1, PGAP2, PGAP3, PIGA, PIGB, PIGC, PIGG, PIGH, PIGL, PIGM, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGU, PIGV, PIGW, PIGY

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KABUKI SYNDROME

Genes: KDM6A, KMT2D

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KLINEFELTER SYNDROME (47,XXY SYNDROME)

Genes: na

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LISSENCEPHALY

Genes: ARX, DCX, KATNB1, MACF1, NDE1, PAFAH1B1, RELN, TMTC3, TUBA1A

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LUJAN-FRYNS SYNDROME

Genes: MED12, UPF3B, ZDHHC9

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MACROCEPHALY core panel

Genes: AKT3, DNMT3A, EZH2, GCDH, GPC3, NFIX, NSD1, PTCH1, PTEN

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MACROCEPHALY extended panel

Genes: ABCC9, AKT3, AMER1, ASPA, BRWD3, CCDC22, CCND2, CDKN1C, CHD8, CUL4B, DIS3L2, DNMT3A, DVL1, DVL3, EZH2, FOXP1, GCDH, GFAP, GLI3, GPC3, GRIA3, HEPACAM, HERC1, HRAS, HUWE1, KIF7, KPTN, KRAS, LZTR1, MED12, MLC1, MTOR, NDUFA1, NFIB, NFIX, NONO, NRAS, NSD1, OFD1, PIGA, PIGN, PIGT, PIGV, PIK3R2, PPP1CB, PPP2R5D, PTCH1, PTCH2, PTEN, RAB39B, RAF1, RHEB, RIT1, RNF135, ROR2, SETD2, SHOC2, SOS1, SUFU, TBC1D7, TMCO1, UPF3B, WASHC5, WNT5A, ZDHHC9

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MENTAL RETARDATION

Genes: na

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MENTAL RETARDATION, X-LINKED

Genes: ABCD1, ACSL4, AFF2, AGTR2, AIFM1, ALG13, AMER1, AP1S2, ARHGEF6, ARHGEF9, ARX, ATP6AP2, ATP7A, ATRX, BCAP31, BCOR, BRWD3, CASK, CCDC22, CDKL5, CLCN4, CLIC2, CNKSR2, CUL4B, DCX, DDX3X, DKC1, DLG3, EBP, EIF2S3, FANCB, FGD1, FLNA, FMR1, FRMPD4, FTSJ1, GDI1, GK, GPC3, GPKOW, GRIA3, HCCS, HCFC1, HDAC6, HDAC8, HMGB3, HNRNPH2, HPRT1, HSD17B10, HUWE1, IDS, IGBP1, IKBKG, IL1RAPL1, IQSEC2, KDM5C, KDM6A, KIF4A, KLF8, KLHL15, L1CAM, LAMP2, LAS1L, MAGT1, MAOA, MBTPS2, MECP2, MED12, MID1, MID2, MSL3, MTM1, NAA10, NDP, NDUFA1, NEXMIF, NHS, NLGN3, NLGN4X, NONO, NSDHL, NXF5, OCRL, OFD1, OGT, OPHN1, OTC, PAK3, PCDH19, PDHA1, PGK1, PHF6, PHF8, PIGA, PLP1, PORCN, PQBP1, PRPS1, PTCHD1, RAB39B, RAB40AL, RBM10, RBMX, RLIM, RNF113A, RPL10, RPS6KA3, SHROOM4, SLC16A2, SLC25A5, SLC6A8, SLC9A6, SMC1A, SMS, SOX3, SRPX2, SSR4, STAG2, SYN1, SYP, TAF1, THOC2, TIMM8A, TMLHE, TSPAN7, UBE2A, UPF3B, USP27X, USP9X, WDR45, ZC4H2, ZCCHC12, ZDHHC15, ZDHHC9, ZMYM3, ZNF41, ZNF674, ZNF711, ZNF81

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MICROCEPHALIES, PRIMARY HEREDITARY extended panel

Genes: ANKLE2, ASPM, CDK5RAP2, CDK6, CENPE, CENPF, CENPJ, CEP135, CEP152, CIT, COPB2, DONSON, KIF14, KNL1, MCPH1, MFSD2A, NCAPD2, NCAPD3, NCAPH, NUP37, PCNT, PHC1, SASS6, STIL, WDFY3, WDR62, ZNF335

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MICROCEPHALIES, PRIMARY HEREDITARY standard panel

Genes: ASPM, CDK5RAP2, CENPJ, DONSON, MCPH1

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MICRODELETION 1p36

Genes: na

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MICRODELETION 22q11.2

Genes: na

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MICRODELETION 22q13.3 (PHELAN MCDERMID SYNDROME)

Genes: na

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MICRODELETION AND MICRODUPLICATION SYNDROMES

Genes: na

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MICRODUPLICATION 22q11.2

Genes: na

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MILLER-DIEKER SYNDROME

Genes: na

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MOWAT-WILSON SYNDROME

Genes: ZEB1

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NEUROTRANSMITTER DISORDERS, PEDIATRIC

Genes: DBH, DDC, DNAJC12, GCH1, MAOA, PCBD1, PTS, QDPR, SLC18A2, SLC6A3, SPR, TH, TPH1, TPH2

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OVERGROWTH SYNDROMES

Genes: CDKN1C, DIS3L2, DNMT3A, EED, EZH2, GPC3, HERC1, HIST1H1E, NFIX, NSD1, OFD1

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PATAU SYNDROME

Genes: na

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PITT-HOPKINS SYNDROME

Genes: TCF4

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PONTOCEREBELLAR HYPOPLASIA core panel

Genes: AMPD2, CHMP1A, CLP1, EXOSC3, EXOSC8, EXOSC9, RARS2, SEPSECS, SLC25A46, TBC1D23, TOE1, TSEN15, TSEN2, TSEN34, TSEN54, VPS53, VRK1

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PONTOCEREBELLAR HYPOPLASIA extended panel

Genes: AMPD2, CHMP1A, CLP1, COASY, EXOSC3, EXOSC8, EXOSC9, PCLO, RARS2, SEPSECS, SLC25A46, TBC1D23, TOE1, TSEN15, TSEN2, TSEN34, TSEN54, VPS53, VRK1

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PRADER-WILLI SYNDROME

Genes: na

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RETT SYNDROME

Genes: MECP2

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RETT SYNDROME AND RETT SYNDROME-LIKE DISORDERS

Genes: ALDH5A1, ARX, BDNF, CDKL5, CNTNAP2, FOXG1, FOXP2, IQSEC2, KCNA2, KCNQ2, KIF1A, MECP2, MEF2C, NRXN1, NTNG1, PLP1, SCN2A, SCN8A, STXBP1, TCF4, UBE3A, ZEB2

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RETT SYNDROME, ATYPICAL

Genes: CDKL5

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RETT SYNDROME, CONGENITAL

Genes: FOXG1

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ROBINOW SYNDROME

Genes: DVL1, DVL3, NXN, ROR2, WNT5A

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RUBINSTEIN-TAYBI SYNDROME

Genes: CREBBP, EP300

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SHPRINTZEN SYNDROME

Genes: na

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SMITH-MAGENIS SYNDROME

Genes: na

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SOTOS SYNDROME

Genes: NSD1

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TRIPLE X SYNDROME (47,XXX SYNDROME)

Genes: na

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TUBULINOPATHIES

Genes: TBCD, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1

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TURNER SYNDROME

Genes: na

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UNIPARENTAL DISOMY

Genes: na

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WEAVER SYNDROME

Genes: EZH2

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WILLIAMS-BEUREN SYNDROME

Genes: na

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WOLF-HIRSCHHORN SYNDROME

Genes: na

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