ISCA Disease List

Home , Brunner syndrome, Currarino syndrome, Cystinuria, Kabuki syndrome, LETM1

Gene content of ISCA arrays 402 gene regions, 377 registered OMIM records

syndrome chromosome Gene Band OMIM ISCA 8x60k

1p36 deletion chr1 SKI 1p36 164780 yes

1p36 deletion chr1 TP73 1p36 601990 yes

Bartter 4 chr1 CLCNKA 1p36 602024 yes

Bartter 3 chr1 CLCNKB 1p36 602023 yes

Bartter 4 chr1 BSND 1p32 606412 yes

NFIA Haploinsufficiency chr1 NFIA 1p31 600727 yes monosomy 1p31 p22 chr1 DIRAS3 1p31 605193 yes

Stickler syndrome chr1 COL11A1 1p21 120280 yes atrial fibrillation chr1 GJA5 1q21 121013 yes

Thrombocytopenia absent radius syndrome chr1 GJA8 1q21 600897 yes

Short stature chr1 LHX4 1q25 602146 yes

Van der Woude syndrome chr1 IRF6 1q32 607199 yes

Fryns 1q41 chr1 DISP1 1q41 607502 yes autism chr1 DISC1 1q42 605210 yes

MR chr1 TBCE 1q42 604934 yes

Feingold chr2 MYCN 2q24 164840 yes

Pseudovaginal perineoscrotal hypospadias chr2 SRD5A2 2p23 607306 yes

Noonan 4 chr2 SOS1 2p22 182530 yes

Cystinuria with mitochondrial disease chr2 SLC3A1 2p21 104614 yes

Cystinuria with mitochondrial disease chr2 PREPL 2p21 104614 yes

Holopresencaphly 2 chr2 SIX3 2p21 603714 yes autism chr2 NRXN1 2p16 600565 yes

MicrodeletionReg 2p15p16.1 microdeletion chr2 2p15 602559 yes ion

Nephronophthsis 1 chr2 NPHP1 2q13 607100 yes Holoprosencephaly 9 chr2 GLI2 2q14 165230 yes visceral heterotaxy chr2 CFC1 2q21 605194 yes

Mowat-Wilson syndrome chr2 ZEB2 2q22 605802 yes autism chr2 SLC4A10 2q24 605556 yes

SCN1A-related seizures chr2 SCN1A 2q24 182389 yes

HYPOMYELINATION, GLOBAL CEREBRAL chr2 SLC25A12 2q31 603667 yes

Split/hand foot malformation -5 chr2 DLX1 2q31 600029 yes

Split/hand foot malformation -5 chr2 DLX2 2q31 126255 yes

Synpolydactyly chr2 EVX2 2q31 142991 yes

Synpolydactyly chr2 HOXDgenes 2q31 142989 yes

Synpolydactyly chr2 HOXD13 2q31 142989 yes

Synpolydactyly chr2 HOXD9 2q31 142982 yes

Cleft pallet chr2 SATB2 2q32 608148 yes

2q32.2 chr2 BMPR2 2q32 600799 yes

Waardenburg syndrome I chr2 PAX3 2q36 606597 yes

2q37 chr2 HDAC4 2q37 605314 yes autsim spectrum disorder chr3 CNTN4 3p25 607280 yes

Von Hippel Lindau chr3 VHL 3p25 608537 yes

Noonan syndrome 5 (NS5) chr3 RAF1 3p25 164760 yes

Loeys-Dietz syndrome chr3 TGFBR2 3p24 190182 yes

MR chr3 TDGF1 3p21 187395 yes

Waardenburg chr3 MITF 3p14 158645 yes

Bartter with autosomal dominant hypocalcemia chr3 CASR 3q13 601199 yes

Blepharophimosis chr3 FOXL2 3q22 605597 yes

Dandy Walker chr3 ZIC4 3q24 608948 yes

Dandy Walker chr3 ZIC1 3q24 600470 yes

Microphtthalmia chr3 SOX2 3q26 184429 yes Optic Atrophy chr3 TP73L 3q28 603273 yes

3q29 microdeletion syndrome chr3 PAK2 3q29 605022 yes

Wolf-Hirschhorn chr4 LETM1 4p16 604407 yes

Wolf-Hirschhorn chr4 WHSC1 4p16 602952 yes

Wolf-Hirschhorn chr4 WHSC2 4p16 606026 yes cleft lip chr4 MSX1 4p16 142983 yes

Polycystic kidney disease chr4 PKD2 4q22 173910 yes

Rieger chr4 PITX2 4q25 601542 yes

Cri du chat chr5 TERT 5p15 187270 yes

Cornelia de Lange chr5 NIPBL 5p13 608667 yes

Gardner chr5 APC 5q22 601731 yes

Adult-onset autosomal dominant chr5 LMNB1 5q23 150340 yes leukodystrophy

Chronic pancreatitis chr5 SPINK1 5q32 167790 yes deafness chr5 TCOF1 5q33 606847 yes

Holoprosencephaly and preaxial polydactly chr5 FBXW11 5q35 605651 yes

Atrial septal defect (ASD) with atrioventricular chr5 NKX2-5 5q35 600584 yes conduction defects

Craniosynostosis chr5 MSX2 5q35 123101 yes

SOTOS chr5 NSD1 5q35 606681 yes

CHROMOSOME 6pter-p24 DELETION chr6 FKHL7(FOXC1) 6p24 609010 yes SYNDROME

Congenitial adrenal hyperplasia (CAH) chr6 CYP21A2 6p21 201910 yes

VEGFA disorders chr6 VEGFA 6p21 192240 yes

Cleidocranial dysplasia chr6 RUNX2 6p21 600211 yes obesity, severe chr6 SIM1 6q16 603128 yes

MENTAL RETARDATION, AUTOSOMAL chr6 GRIK2 6q16 138244 yes RECESSIVE 6; MRT6 eye chr6 AHI1 6q23 608894 yes diabetes mellitus, transient neonatal, 1 chr6 ZAC(PLAGL1) 6q24 603044 yes diabetes mellitus, transient neonatal, 1 chr6 HYMAI 6q24 603044 yes Hepatocellular carcinoma chr6 IGF2R 6q25 147260 yes

Saethre-Chotzen chr7 TWIST1 7p21 601622 yes

GREIG CEPHALOPOLYSYN DACTYLY chr7 GLI3 7p14 165240 yes SYNDROME

Silver-Russell chr7 GRB10 7p12 161523 yes

Williams-Beuren chr7 ELN 7q11 130160 yes

Williams-Beuren chr7 LIMK1 7q11 194050 yes

Williams-Beuren chr7 NCF1 7q11 608512 yes

Ehlers - Danlos chr7 COL1A2 7q21 120160 yes

Dystonia-11 chr7 SGCE 7p21 604149 yes

Dystonia-11 chr7 PEG10 7p21 604149 yes

Dystonia-11 chr7 PEG10_ICregion 7p21 604149 yes

Dystonia-11 chr7 PPP1R9A 7q21 602468 yes

Split/hand foot chr7 SHFM1 7q21 183600 yes

Split/hand foot chr7 DLX5 7q21 600028 yes

none chr7 NPTX2 7q22 600750 yes

Lissencephaly with cerebellar hypoplasia chr7 RELN 7q22 600514 yes

Verbal dyspraxia chr7 FOXP2 7q31 605317 yes autism chr7 MET 7q31 164860 yes autism chr7 CADPS2 7q31 609978 yes autism chr7 CPA4 7q32 607635 yes autism chr7 MEST 7q32 601029 yes autism chr7 KLF14 7q32 609393 yes

MR chr7 PRSS1 7q34 601564 yes autism chr7 CNTNAP2 7q35-36 276000 yes autism chr7 EN2 7q36 131310 yes

Holoprosencephaly 3 chr7 SHH 7q36 600725 yes

POLYDACTYLY, PREAXIAL II chr7 LMBR1 7q36 605522 yes CURRARINO SYNDROME chr7 HLXB9(MNX1) 7q36 142994 yes

MR chr8 DLGAP2 8p23 605438 yes diGeorge chr8 MFHAS1 8p23 605352 yes diGeorge chr8 GATA4 8p23 600576 yes

Kabuki Syndrome chr8 CTSB 8p23 116810 yes

Kallman 1 chr8 FGFR1 8p12 136350 yes

CHARGE syndrome chr8 CHD7 8q12 601653 yes

Branchio-Oto-Renal Syndrome chr8 EYA1 8q13 602064 yes

Manic depressive psychosis chr8 IMPA1 8q21 602064 yes congenital heart chr8 ZFPM2(FOG2) 8q23 603693 yes

Trischororhinophlange al, Langer-Giedion chr8 TRPS1 8q23 604386 yes Syndrome probes

Langer-Giedion Syndrome probes chr8 EXT1 8q23 150230 yes

8q24.3 chr8 KCNK9 8q24 605874 yes

CHROMOSOME 9p DELETION SYNDROME chr9 DMRT1 9p24 602424 yes

CHROMOSOME 9p DELETION SYNDROME chr9 DMRT2 9p24 604935 yes

HOLOPROSENCEPH ALY 7 chr9 PTCH1 9q22 601309 yes

9q22.32-q22.33 / Loeys-Dietz chr9 TGFBR1 9q22 190181 yes

XY sex reversal chr9 NR5A1 9q3 184757 yes

Nail-Patella Syndrome chr9 LMX1B 9q33 602575 yes

Tuberous sclerosis chr9 TSC1 9q34 605284 yes

9q34.3 syndrome chr9 EHMT1 9q34 607001 yes diGeorge 2 chr10 GATA3 10p14 131320 yes

Nebulette chr10 NEBL 10p12 605491 yes

Hirschsprung Disease Plus chr10 RET 10q11 164761 yes autism chr10 EGR2 10q21 129010 yes

10q22-23 deletion chr10 NRG3 10q22 605533 yes

10q22-23 deletion chr10 GRID1 10q22 610659 yes Cowden chr10 BMPR1A 10q23 601728 yes

MR chr10 PTEN 10q23 612242 yes

CATARACT, JUVENILE, WITH chr10 SLC16A12 10q23 611910 yes MICROCORNEA AND GLUCOSURIA

Split/hand foot malformation -3 chr10 LBX1 10q24 604255 yes

Split/hand foot malformation -3 chr10 BTRC 10q24 603482 yes

Split/hand foot malformation -3 chr10 POLL 10q24 606343 yes

Split/hand foot malformation -3 chr10 FBXW4 10q24 600095 yes

Schizencephaly chr10 EMX2 10q26 600035 yes

Beckwith-Wiedemann chr11 H19 11p15 103280 yes a non-coding region chr11 H19_ICregion 11p15 yes

Beckwith-Wiedemann chr11 IGF2 11p15 147470 yes

176730, Beckwith-Wiedemann chr11 INS 11p15 yes 191290 long QT syndrome chr11 KCNQ1 11p15 607542 yes

chr11 KCNQ1_ICregion 11p15 607542 yes

Beckwith-Wiedemann chr11 CDKN1C 11p15 607542 yes

Beckwith-Wiedemann chr11 SLC22A18 11p15 602631 yes

Beckwith-Wiedemann chr11 PHLDA2 11p15 602631 yes

Beckwith-Wiedemann chr11 OSBPL5 11p15 606733 yes

Craniosynostosis chr11 SOX6 11p15.1-p15.2 607257 yes

Infantile hyperinulinism, enteropathy and chr11 ABCC8 11p15 600509 yes deafness (Ushers disease) Infantile hyperinulinism, enteropathy and chr11 USH1C 11p15 605242 yes deafness (Ushers disease)

Aniridia chr11 PAX6 11p13-p14 607108 yes

WAGR Syndrome probes chr11 WT1 11p13 607102 yes

Potocki-Shaffer syndrome chr11 EXT2 11p11 608210 yes

Potocki-Shaffer syndrome chr11 ALX4 11p11 605420, yes

Leukodystrophy chr11 NDUFV1 11q13 161015 yes

Smith-Lemli-Opitz chr11 DHCR7 11q13 602858 yes 11q14 microdeletion chr11 FZD4 11q14 604579 yes

Bartter 2 chr11 KCNJ1 11q24 600359 yes

Timothy syndrome chr12 CACNA1C 12p13 114205 yes

Sticker 1 chr12 COL2A1 12q13 120140 yes

Osteopoikilosis chr12 LEMD3 12q14 607844 yes

12q14.3 deletion chr12 GRIP1 12q14 604597 yes

Joubert 5 chr12 CEP290 12q21 610142 yes

Noonan 1 chr12 PTPN11 12q24 176876 yes

Holt-Oram syndrome chr12 TBX5 12q14 601620 yes

Ulnar-Mammary chr12 TBX3 12q24 601621 yes

GJB2(Connexin Deafness chr13 13q12 121011 yes 26) CRYPTORCHIDISM, UNILATERAL OR chr13 LGR8(RXFP2) 13q13 606655 yes BILATERAL

Breast cancer chr13 BRCA2 13q13 600185 yes

Retinoblastoma chr13 RB1 13q14 180200 yes

13q21.32 del Protocadherin 9 chr13 PCDH9 13q21 603581 yes

Hirschsprung Disease Plus chr13 EDNRB 13q22 131244 yes brachydactyly chr13 GPC5 13q31 602446 yes brachydactyly chr13 GPC6 13q31 604404 yes

Holopresencaphyl 5 chr13 ZIC2 13q32 603073 yes

14q11.2 deletion chr14 SUPT16H 14q11 605012 yes

MicrodeletionReg 14q11.2 deletion chr14 14q11 605012 yes ion

14q11.2 deletion chr14 CHD8 14q11 610528 yes

14q12 deletion chr14 FOXG1B 14q12 yes

Oligodontia chr14 PAX9 14q13 yes

14q22 microdeletion, Orofacial cleft 11 chr14 BMP4 14q22 112262 yes

14q22 microdeletion, Microphthalmia, chr14 OTX2 14q22 600037 yes syndromic 5

14q22 microdeletion chr14 SIX6 14q22 606326 yes 14q22 microdeletion chr14 SIX1 14q22 601205 yes

14q22 microdeletion chr14 SIX4 14q22 606342 yes maternal UPD chr14 DLK1 14q32 176290 yes

DLK1&MEG3_IC maternal UPD chr14 14q32 176290 yes regio maternal UPD chr14 MEG3 14q32 605636 yes

Angelman / Prader Willi chr15 NIPA2 15q11 608146 yes

Angelman / Prader Willi chr15 NIPA1 15q11 608146 yes

Angelman / Prader Willi chr15 MKRN3 15q11 603586 yes

Angelman / Prader Willi chr15 MAGEL2 15q11 605283 yes

Angelman / Prader Willi chr15 NDN 15q11 602117 yes

Angelman / Prader Willi chr15 SNRPN 15q11 182279 yes

Angelman / Prader Willi chr15 PWS_ICregion 15q11 182279 yes

Angelman / Prader Willi chr15 SNURF 15q11 182279 yes

Angelman / Prader Willi chr15 PWS_ICregion 15q11 182279 yes

Angelman / Prader Willi chr15 SNRPN 15q11 182279 yes

SNORD107/64/1 Angelman / Prader Willi chr15 15q11 182279 yes 08

Angelman / Prader Willi chr15 SnoRNA 15q11 601491 yes

Angelman / Prader Willi chr15 SNORD109B 15q11 yes

MR chr15 UBE3A 15q11 601623 yes autism chr15 ATP10A 15q12 605855 yes autism chr15 GABRB3 15q12 137192 yes

Oculocutaneous albinism 2 chr15 OCA2 15q13 611409 yes

15q13.3 microdeletion syndr chr15 CHRNA7 15q13 118511 yes

KIAA0377(HISP 15q15.3 infertility and deafness chr15 15q15 601979 yes PD2A)

15q15.3 infertility and deafness chr15 CATSPER2 15q15 611102 yes

Bartter 1 chr15 SLC12A1 15q21 600839 yes

MARFAN SYNDROME chr15 FBN1 15q21 134797 yes MARFAN SYNDROME chr15 DMXL2 15q21 612186 yes

Congenital diaphragmatic hernia chr15 CHD2 15q26 602119 yes

Congenital diaphragmatic hernia chr15 NR2F2 15q26 107773 yes

IGF-1 resistance chr15 IGF1R 15q25 147307 yes

Alpha thalassemia mental retardation chr16 HBA1&HBA2 16p13 141850 yes

Mental retardation associated with Alpha chr16 SOX8 16p13 605923 yes thalaessamia TUBEROUS SCLEROSIS, polycystic kidney chr16 TSC2 16p13 191902 yes disease

Polycystic kidney disease chr16 PKD1 16p13 601313 yes

Rubinstein Taybi Syndrome chr16 DNASE1 16p13 125505 yes

RUBINSTEIN-TAYBI SYNDROME chr16 CREBBP 16p13 600140 yes

16p13.2 del chr16 A2BP1 16p13 605104 yes

Creatine deficiency syndrome / X-linked chr16 SLC6A8 16p11 yes mental retardation (XLMR) chr16 Centromere 16p11 yes

Townes Brocks chr16 SALL1 16q12 602218 yes

Gitleman chr16 SLC12A3 16q13 610966 yes

Bilateral frontoparietal polymicrogyria chr16 GPR56 16q13 604110 yes

DELAYED CRANIAL OSSIFICATION DUE TO chr16 CBFB 16q22 121360 yes CBFB HAPLOINSUFFICIENCY INCLUDED

FANCONI ANEMIA chr16 FANCA 16q24 607139 yes

Miller-Dieker chr17 ABR 17p13 600365 yes

Miller-Dieker chr17 YWHAE 17p13 605066 yes

Miller-Dieker chr17 PITPNA 17p13 600174 yes

PAFAH1B1(LIS1 Miller-Dieker chr17 17p13 601545 yes )

Cystinosis chr17 CTNS 17p13 606272 yes

Li-Fraumeni 1 chr17 TP53 17p13 191170 yes

Charcot-Marie Tooth Disease chr17 PMP22 17p11 601097 yes

Smith-Magenis chr17 RAI1 17p11 607642 yes

NEUROTICISM chr17 SLC6A4 17p11 182138 yes Neurofibromatosis 1 chr17 NF1 17q11 162200 yes

Neurofibromatosis 1 chr17 JJAZ1(SUZ12) 17q11 606245 yes

RENAL CYSTS AND DIABETES SYNDROME chr17 TCF2(HNF1B) 17q12 189907 yes

Sclerostin chr17 SOST 17q21 605740 yes

17q21.31 chr17 CRHR1 17q21 122561 yes

17q21.31 chr17 MAPT 17q21 157140 yes

THROMBASTHENIA OF GLANZMANN AND chr17 ITGB3 17q21 173470 yes NAEGELI

Osteogenesis imperfecta chr17 COL1A1 17q21 120150 yes

Campomelic dysplasia chr17 SOX9 17q24 608160 yes

Holopresencaphly 4 chr18 TGIF1 18p31 602630 yes

Holopresencaphly 4 chr18 TCEB3C 18q21 609522 yes

Dyggve-melchior-claussen disease chr18 DYM 18q21 607461 yes

HEREDITARY HEMORRHAGIC chr18 MADH4(SMAD4) 18q21 600993 yes TELANGIECTASIA SYNDROME

Pitt Hopkins chr18 TCF4 18q21 602272 yes

CHROMOSOME 18q DELETION SYNDROME chr18 ZNF407 18q22 yes

CHROMOSOME 18q DELETION SYNDROME chr18 GALR1 18q23 600377 yes

DIAMOND-BLACKFAN ANEMIA chr19 RPS19 19q13 603474 yes

DIAMOND-BLACKFAN ANEMIA chr19 ZIM2 19q13 601483 yes

DIAMOND-BLACKFAN ANEMIA chr19 PEG3 19q13 601483 yes

DIAMOND-BLACKFAN ANEMIA chr19 PEG3_ICregion 19q13 601483 yes

Zinc finger protein-264 chr19 ZNF264 19q13 604668 yes

Alagille Syndrome chr20 JAG1 20p12 601920 yes

Brachydactyl type C chr20 GDF5 20q11 601146 yes

Brachydactyl type C chr20 NNAT 20q11 603106 yes

Brachydactyl type C chr20 L3MBTL 20q13 608802 yes

Okihiro chr20 SALL4 20q13 607343 yes

Okihiro chr20 GNAS_ICregion 20q13 603666 yes Albright Hereditary osteodystrophy chr20 GNAS 20q13 139320 yes

Albright Hereditary osteodystrophy chr20 GNAS_ICregion 20q13 139320 yes

Cerebral amyloid angiopathy chr21 APP 21q21 104760 yes

DOWN SYNDROME CRITICAL REGION chr21 DSCR1(RCAN1) 21q22 602917 yes

DOWN SYNDROME CRITICAL REGION chr21 RUNX1 21q22 151385 yes

DOWN SYNDROME CRITICAL REGION chr21 DSCR3 21q22 605298 yes

Downs Syndrome Critical Region” Probes chr21 DYRK1A 21q22 600855 yes

Holoprosencephaly 1 chr21 TMEM1 21q22 602103 yes

Holoprosencephaly 1 (HPE1 ) chr21 LSS 21q22 600909 yes

Holoprosencephaly 1 (HPE1 ) chr22 ATP6V1E1 22q11 108746 yes diGeorge 1 chr22 HIRA 22q11 600637 yes diGeorge 1 chr22 TBX1 22q11 602054 yes diGeorge 1 chr22 CRKL 22q11 602007 yes

22q11.2 distal deletion chr22 BCR 22q11 151410 yes

Meningioma / NF2 chr22 NF2 22q12 607379 yes

METACHROMATIC LEUKODYSTROPHY chr22 ARSA 22q13 607574 yes autism chr22 SHANK3 22q13 606230 yes

PAR1 chrX PAR1 Xp22 yes

SHOX chrX SHOX Xp22 400020 yes

Chondrodysplasia punctata, X-linked recessive chrX CDPX1(ARSE) Xp22 300180 yes autism chrX NLGN4X Xp22 300427 yes

Steroid sulfatase chrX VCX3A Xp22 300533 yes

Steroid sulfatase chrX STS Xp22 300747 yes

XLMR chrX VCX3A Xp22 yes

Kallmann chrX KAL1 Xp22 308700 yes

Opitz chrX MID1 Xp22 300552 yes XLMR chrX HCCS Xp22 300056 yes

Orofaciodigital 1 chrX OFD1 Xp22 300170 yes

XLMR chrX FANCB Xp22 300515 yes

XLMR chrX AP1S2 Xp22 300629 yes

Nance-Horan chrX NHS Xp22 300457 yes

X linked spasms chrX CDKL5 Xp22 300203 yes

X linked juvenille retinoschisis chrX RS1 Xp22 312700 yes

Pyruvate dehydrogenase deficiency chrX PDHA1 Xp22 300502 yes

Coffin-Lowry chrX RPS6KA3 Xp22 300075 yes

XLMR chrX SMS Xp22 300105 yes

Hypophosphatemic rickets chrX PHEX Xp22 300550 yes

XLMR chrX ARX Xp21 300382 yes

XLMR chrX IL1RAPL1 Xp21 300206 yes

Adrenal hypoplasia congenita chrX NR0B1(DAX1) Xp21 300473 yes

Glycerol Kinase deficiency chrX GK Xp21 300474 yes

Muscular dystrophy chrX DMD Xq28 300777 yes

Chronic granulomatous disease chrX CYBB xp11 300481 yes

Ornithine transcarbamylase deficiency chrX OTC Xp11 300461 yes

TM4SF2(TSPAN XLMR chrX Xp11 300096 yes 7)

XLMR chrX BCOR Xp11 300485 yes

XLMR chrX ATP6AP2 Xp11 300566 yes

XLMR chrX CASK Xp11 300172 yes

BRUNNER SYNDROME chrX MAOA Xp11 309850 yes

Norrie disease chrX NDP Xp11 300658 yes

Xp11.3 deletion chrX ZNF674 Xp11 300573 yes

Xp11.3 deletion chrX RP2 Xp11 300757 yes

XLMR chrX ZNF41 Xp11 314995 yes XLMR chrX SYN1 Xp11 311040 yes

XLMR chrX ELK1 Xp11 311040 yes

XLMR chrX ZNF81 Xp11 314998 yes

X-linked mental retardation (XLMR) chrX SLC38A5 Xp11 300649 yes

XLMR chrX FTSJ1 Xp11 300499 yes

XLMR chrX PORCN Xp11 300651 yes

XLMR chrX PQBP1 Xp11 300463 yes nephrolithiasis 2, X-linked, Dent disease chrX CLCN5 Xp11 300008 yes

SHROOM4(KIAA XLMR chrX Xp11 300579 yes 1202

XLMR chrX JARID1C Xp11 314690 yes

SMC1L1(SMC1A X-linked Cornelia de Lange syndrome chrX Xp11 300040 yes ) MENTAL RETARDATION, X-LINKED, HADH2(HSD17B chrX Xp11 300256 yes SYNDROMIC 10; MRXS10 10)

Mental retardation, X-linked, syndromic, Turner chrX HUWE1 Xp11 300697 yes

XLMR chrX PHF8 Xp11 300560 yes

AARSKOG-SCOTT SYNDROME chrX FGD1 Xp11 300564 yes

XLMR chrX KLF8 Xp11 300286 yes

Heterotaxy chrX ARHGEF9 Xq11 300429 yes

Androgen insensitivity syndrome chrX AR Xq12 313700 yes MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND chrX OPHN1 Xq12 300127 yes DISTINCTIVE FACIAL APPEARANCE Ectodermal dysplasia chrX EDA Xq13 300451 yes

XLMR chrX DLG3 Xq13 300189 yes

Opitz - Kaveggia syndrome chrX MED12 Xq13 300188 yes autism chrX NLGN3 Xq13 300336 yes

XLMR chrX ZNF261(ZMYM3) Xq13 30061 yes

XIST deficiency chrX XIST Xq13 314670 yes

Allan-Herndon-Dudley syndrome, X-linked, chrX SLC16A2 Xq13 300095 yes mental retardation (XLMR)

XLMR chrX KIAA2022 Xq13 300524 yes XLMR chrX ZDHHC15 Xq13 300576 yes

ALPHA-THALASSEMIA/MENTAL chrX ATRX Xq21 300032 yes RETARDATION SYNDROME

Menkes disease chrX ATP7A Xq21 300011 yes

Phosphoglycerate kinase deficiency chrX PGK1 Xp21 311800 yes

XLMR chrX BRWD3 Xp21 300553 yes

Choroideremia chrX CHM Xp21 300390 yes ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, chrX SRPX2 Xq22 300642 yes X-LINKED Deafness-Dystonis-Optic Neuronopathy chrX TIMM8A Xq22 300356 yes

X linked agammaglobulinemia chrX BTK Xq22 300300 yes

Fabry disease chrX GLA Xq22 300644 yes

XLMR chrX NXF5 Xq22 300319 yes

PELIZAEUS-MERZBACHER DISEASE chrX PLP1 Xq22 300401 yes CHARCOT-MARIE-TOOTH DISEASE, X- LINKED RECESSIVE, 5, PRPP synthetase chrX PRPS1 Xq22 311850 yes hyperactivity Opitz / FP syndrome chrX MID2 Xq22 300204 yes

Alport syndrome (X) chrX COL4A5 Xq22 303630 yes

XLMR chrX ACSL4 Xp22 300157 yes

XLMR chrX PAK3 Xp22 300142 yes

MR chrX DCX Xp22-p23 300121 yes

XLMR chrX AGTR2 Xq23 300034 yes

XLMR chrX UBE2A Xq23 312180 yes

XLMR chrX UPF3B Xq24 300298 yes

XLMR chrX NDUFA1 Xq24 300078 yes

Danon disease chrX LAMP2 Xq24 309606 yes

XLMR chrX CUL4B Xq24 300304 yes

XLMR chrX GRIA3 Xq24 305915 yes

LYMPHOPROLIFERATIVE SYNDROME, X- chrX BIRC4(XIAP) Xq25 300079 yes LINKED, 2 LYMPHOPROLIFERATIVE SYNDROME, X- chrX SH2D1A Xq25 300490 yes LINKED, 1 Lowe chrX OCRL Xq25 300535 yes

XLMR chrX ZDHHC9 Xq25 300646 yes

Simpson - Golabi Behmel type 1 chrX GPC3 Xq26 300037 yes

BORJESON-FORSSMAN-LEHMANN chrX PHF6 Xq26 300414 yes SYNDROME

Lesch-Nyhan syndrome chrX HPRT1 Xq26 308000 yes

X-linked mental retardation (XLMR), chrX SLC9A6 Xq26 300231 yes syndromic,Chrystianson type

XLMR chrX ARHGEF6 Xq26 300267 yes

X linked heterotaxy chrX ZIC3 Xq26 300265 yes

HEMOPHILIA B chrX F9 Xq27 300746 yes

Mental retardation X-linked Xq27.1 dup and chrX SOX3 Xq27 313430 yes del

Fragile X (FMR1 and FMR2 deletion) chrX FMR1 Xq27 309550 yes

Fragile X (FMR1 and FMR2 deletion) chrX FMR2(AFF2) Xq28 309548 yes

Hunter syndrome, Mucopolysaccharidosis type chrX IDS Xq28 309900 yes II

MYOTUBULAR MYOPATHY chrX MTM1 Xq28 300415 yes

Creatine deficiency syndrome, XLMR chrX SLC6A8 Xq28 300036 yes

Adrenoleukodystrophy; (ALD) chrX ABCD1 Xq28 300475 yes

HSAS, MASA, CRASH syndromes chrX L1CAM Xq28 300371 yes

Diabetes insipidus, nephrogenic, X-linked chrX AVPR2 Xq28 300538 yes

Retts chrX MECP2 Xq28 300260 yes

HETEROTOPIA, PERIVENTRICULAR, X- chrX FLNA Xq28 300017 yes LINKED DOMINANT

XLMR chrX RPL10 Xq28 209850 yes

XLMR chrX GDI1 Xq28 300104 yes

INCONTINENTIA PIGMENTI chrX IKBKG Xq28 300248 yes

DYSKERATOSIS CONGENITA, X-LINKED chrX DKC1 Xq28 300125 yes

Hemophila chrX F8 Xq28 306700 yes

PAR2 chrX PAR2 Xq28 300053 yes

SRY deletion chrY SRY Yp11 480000 yes AZFa chrY AZFa Yq11 400005 yes

AZFc region chrY BPY2 Yq11 400013 yes

AZFc region chrY AZFc Yq11 400003 yes

AZFc region chrY DAZ1 Yq11 400003 yes

AZFc region chrY CDY1 Yq11 400016 yes

GOLGA2LY(AF3 AZFc region chrY Yq11 400035 yes 3222

AZFc region chrY BPY2 Yq11 400016 yes

AZFc region chrY BPY2 Yq11 400013 yes

GOLGA2LY(AF3 AZFc region chrY Yq11 400035 yes 3222

AZFc region chrY CDY1 Yq11 400016 yes