Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Intellectual developmental disorder with persistence of fetal hemoglobin is characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin (HbF) (summary by Dias et al., 2016).Many of these features overlap with chromosome 2p16.1-p15 deletion syndrome (OMIM ).

Genes related to Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin

BCL11A

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Clinical Features

Top most frequent phenotypes and symptoms related to Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin

Intellectual disability
Global developmental delay
Microcephaly
Strabismus
Low-set ears
Delayed speech and language development
Epicanthus
Downslanted palpebral fissures
Hypoplasia of the corpus callosum
Cerebellar atrophy

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin Is also known as dias-logan syndrome, intellectual developmental disorder with hereditary persistence of fetal hemoglobin.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dias-Logan Syndrome via BCL11A Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). BCL11A Specificity 100 % Genes 100 %
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). BDNF, RPS6KA3, SCN2A, SCN8A, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMC1A, KDM5C, STXBP1, TBR1, TCF4, TSPAN7, TRIO, UBA7, UBE2A, ZNF711, BCL11A, FTSJ1 , (...) View the complete list with 90 more genes Panel complete gene list BDNF, RPS6KA3, SCN2A, SCN8A, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMC1A, KDM5C, STXBP1, TBR1, TCF4, TSPAN7, TRIO, UBA7, UBE2A, ZNF711, BCL11A, FTSJ1, VPS35, CNTNAP2, FMN2, CIC, NLGN4X, SHANK3, ARHGEF9, DEAF1, CAPS, SNX14, SETBP1, ADNP, PIDD1, RAB39B, ZBTB11, BRWD3, CDH15, ARID1B, ARX, ELP2, ZDHHC9, NAA10, CHD2, SDK2, SIN3A, USP44, CLCN4, SUMF2, UPF3B, MBD5, ZC3H14, MED13L, TRAPPC6B, KIRREL3, SPATA13, MED23, ABI2, CTNNB1, CUL4B, SETD5, TBC1D23, SLAIN1, PTCHD1, METTL23, DDX3X, MED25, DLG3, IQSEC2, WASHC4, TBC1D24, DMBT1, TET1, DCPS, CRBN, CC2D1A, TUSC3, GATAD2B, TRAPPC9, HUWE1, FBXO47, EXTL3, ACSL4, FGD1, AFF2, FOXG1, GDI1, ADGRG2, GRIA3, GRIN1, GRIN2B, HIVEP2, SYNRG, AP1S2, IL1RAPL1, AFF3, LAMC1, MAGEA11, MAN1B1, MAP3K7, MAPK8, MECP2, MEF2C, MPDZ, MYT1L, NDST1, OPHN1, PAK3, ATRX, PQBP1, PRSS12 Specificity 1 % Genes 100 %
Autism Spectrum Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SCN1A, SCN2A, SGSH, BRAF, SLC6A1, SLC9A6, SPAST, CDKL5, STXBP1, SYN2, TBR1, TCF20, TCF4, TSC1, TSC2, UBE3A, BCL11A, CNTNAP2, CACNA1C, CSMD1 , (...) View the complete list with 85 more genes Panel complete gene list SCN1A, SCN2A, SGSH, BRAF, SLC6A1, SLC9A6, SPAST, CDKL5, STXBP1, SYN2, TBR1, TCF20, TCF4, TSC1, TSC2, UBE3A, BCL11A, CNTNAP2, CACNA1C, CSMD1, NSD1, AUTS2, PCDH19, NLGN4X, NLGN3, SHANK3, SHANK2, DEAF1, CACNA2D3, CTTNBP2, ADNP, TBC1D20, RAB39B, BCKDK, ZMYND11, CDC42BPB, ARID1B, ARX, MFRP, GRIP1, POGZ, ASH1L, POMGNT1, CHD2, STXBP5, ZNF407, CHD8, UPF3B, MBD5, CHD7, WDFY3, ANKRD11, CNTN6, VPS13B, MED13L, DGAT2L6, KMT5B, EHMT1, CTNND2, KATNAL2, CUL3, SETD5, PTCHD1, DHCR7, DISC1, EFR3A, ADSL, TNRC6B, ASXL3, NEXMIF, C12orf57, PACS1, CC2D1A, DSCAM, NAA15, DYRK1A, ABCA7, FMR1, FOLR1, FOXG1, FOXP1, GABRB3, GAMT, GATM, GRIN2B, HCN1, ANK2, HOXA1, KCNQ3, KRAS, SMAD4, MAGEL2, MAOA, MECP2, MYO9B, MYT1L, NDP, NFIX, NRXN1, KAT2B, PQBP1, PTEN, RAD21, RAI1, RELN Specificity 1 % Genes 100 %
Mental Retardation and Dysmorphology - panels. By MGZ Medical Genetics Center (Germany). RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...) View the complete list with 322 more genes Panel complete gene list RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, KDM5C, SMPD1, SMS, SOS1, SOS2, SOX10, SOX3, CDKL5, SYN1, SYNGAP1, SYP, TBX3, TBX5, TCF4, TCOF1, TFAP2A, TIMM8A, TSPAN7, MED12, TRPS1, TSC1, TSC2, TWIST1, UBE2A, UBE3A, KDM6A, WNT5A, KAT6A, ZMYM3, ZNF41, ZNF711, ZNF81, ACTB, BCL11A, LMBR1, FTSJ1, HDAC8, MCOLN1, NSDHL, DCHS1, CTCF, CNTNAP2, FOXP2, CACNG2, NSD1, RAB23, PCDH19, NLGN4X, NLGN3, ACTG1, NPC2, ARHGEF9, ZEB2, ALX1, CASK, SNX14, CBL, SHOC2, MBTPS2, CBS, SETBP1, CCND2, SALL4, TP63, RAB39B, UBR1, SRCAP, MLC1, WAC, BRWD3, CDH15, ZNF674, PORCN, CDKN1C, ARID1B, ARX, PHF6, ATP6AP2, SETD2, ZDHHC9, NAA10, THOC2, DOCK6, CHRNA7, CHD8, POLR1C, CLCN4, SPRED1, ZDHHC15, SUMF1, POLR1D, UPF3B, MBD5, CHD7, CLIC2, PHF8, BCOR, CUL7, TBC1D7, RNF135, ANKRD11, VPS13B, MED13L, PEX26, GNPTG, FAT4, A2ML1, CREBBP, MED23, TCTN3, C2CD3, KANSL1, EHMT1, SMC3, CTNNB1, CCDC8, RAB40AL, CUL4B, OFD1, LAS1L, CPLANE1, NFATC2IP, NSUN2, CTC1, HEPACAM, PTCHD1, HGSNAT, DCX, DDX3X, CCNQ, EOGT, DHCR7, DIS3L2, DHODH, NIPBL, MAGT1, DKC1, CCDC22, WDR45, WASHC5, DLG3, SPECC1L, IQSEC2, OBSL1, DLL4, SHROOM4, ARHGAP31, DMD, EPG5, NEXMIF, GPSM2, C12orf57, GNPTAB, DNMT3A, PACS1, STRADA, CRBN, CC2D1A, KIF7, TXNL4A, SRPX2, GATAD2B, TRAPPC9, DVL1, EFTUD2, HUWE1, DYRK1A, EDN3, EDNRA, EDNRB, AGL, EFNB1, EIF2B5, EIF2S3, EMD, EP300, EPB41L1, AGTR2, ERCC6, ERCC8, EZH2, ACSL4, FANCB, FGD1, FGFR1, FGFR2, FGFR3, FHL1, FLNA, FLNB, FMR1, AFF2, FOXG1, FOXP1, AKT1, AKT3, FUCA1, G6PC, SLC37A4, GAA, GALNS, GBA, GBE1, GDI1, GFAP, GK, GLB1, GLI3, GNAQ, GNAS, GNS, GPC3, ALX3, ALX4, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GUSB, HSD17B10, HCCS, HCFC1, HERC2, HEXA, HEXB, ANK3, HOXD13, HPRT1, HRAS, IDH1, IDH2, IDS, IDUA, IGBP1, AP1S2, ABCC6, RBPJ, IKBKG, IL1RAPL1, ABCC9, INSR, IRF6, JAG1, KCNJ10, KLF8, KPTN, KRAS, L1CAM, LAMP2, LRP5, LZTR1, MAGEL2, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, ARHGEF6, MECP2, MEF2C, MID1, MITF, KMT2D, MTM1, TRIM37, ASPA, MYH7, NAGLU, NDP, NDUFA1, NF1, NFIX, NHS, NOG, NOTCH2, NPC1, NRAS, NRXN1, NXF5, OCRL, OPHN1, OTC, PAK3, PAX3, ATP7A, AIFM1, PDHA1, PEX1, PEX10, PEX12, PEX6, ATRX, KIF1A, PGK1, PHKA1, PHKA2, PHKB, PHKG2, PIK3CA, PIK3R2, PITX1, PLP1, PLXND1, POR, PQBP1, PRPS1, PTCH1, PTEN, PTPN11, PEX2, PYGL, PYGM, RAD21, RAF1, RAI1, RASA1, RASA2, RBM10, RECQL4, REV3L Specificity 1 % Genes 100 %
Syndromal Diseases - panels. By MGZ Medical Genetics Center (Germany). RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...) View the complete list with 321 more genes Panel complete gene list RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, KDM5C, SMPD1, SMS, SOS1, SOS2, SOX10, SOX3, CDKL5, SYN1, SYNGAP1, SYP, TBX3, TBX5, TCF4, TCOF1, TFAP2A, TIMM8A, TSPAN7, MED12, TRPS1, TSC1, TSC2, TWIST1, UBE2A, UBE3A, KDM6A, WNT5A, KAT6A, ZMYM3, ZNF41, ZNF711, ZNF81, ACTB, BCL11A, LMBR1, FTSJ1, HDAC8, MCOLN1, NSDHL, DCHS1, CTCF, CNTNAP2, FOXP2, CACNG2, NSD1, RAB23, PCDH19, NLGN4X, NLGN3, ACTG1, NPC2, ARHGEF9, ZEB2, ALX1, CASK, SNX14, CBL, SHOC2, MBTPS2, CBS, SETBP1, CCND2, SALL4, TP63, RAB39B, UBR1, SRCAP, MLC1, WAC, BRWD3, CDH15, ZNF674, PORCN, CDKN1C, ARID1B, ARX, PHF6, ATP6AP2, SETD2, ZDHHC9, NAA10, THOC2, DOCK6, CHRNA7, CHD8, POLR1C, CLCN4, SPRED1, ZDHHC15, SUMF1, POLR1D, UPF3B, MBD5, CHD7, CLIC2, PHF8, BCOR, CUL7, TBC1D7, RNF135, ANKRD11, VPS13B, MED13L, PEX26, GNPTG, FAT4, A2ML1, CREBBP, MED23, TCTN3, C2CD3, KANSL1, EHMT1, SMC3, CTNNB1, CCDC8, RAB40AL, CUL4B, OFD1, LAS1L, CPLANE1, NFATC2IP, NSUN2, HEPACAM, PTCHD1, HGSNAT, DCX, DDX3X, CCNQ, EOGT, DHCR7, DIS3L2, DHODH, NIPBL, MAGT1, DKC1, CCDC22, WDR45, WASHC5, DLG3, SPECC1L, IQSEC2, OBSL1, DLL4, SHROOM4, ARHGAP31, DMD, EPG5, NEXMIF, GPSM2, C12orf57, GNPTAB, DNMT3A, PACS1, STRADA, CRBN, CC2D1A, KIF7, TXNL4A, SRPX2, GATAD2B, TRAPPC9, DVL1, EFTUD2, HUWE1, DYRK1A, EDN3, EDNRA, EDNRB, AGL, EFNB1, EIF2B5, EIF2S3, EMD, EP300, EPB41L1, AGTR2, ERCC6, ERCC8, EZH2, ACSL4, FANCB, FGD1, FGFR1, FGFR2, FGFR3, FHL1, FLNA, FLNB, FMR1, AFF2, FOXG1, FOXP1, AKT1, AKT3, FUCA1, G6PC, SLC37A4, GAA, GALNS, GBA, GBE1, GDI1, GFAP, GK, GLB1, GLI3, GNAQ, GNAS, GNS, GPC3, ALX3, ALX4, TECR, GRIA3, GRIK2, GRIN1, GRIN2A, GRIN2B, GUSB, HSD17B10, HCCS, HCFC1, HERC2, HEXA, HEXB, ANK3, HOXD13, HPRT1, HRAS, IDH1, IDH2, IDS, IDUA, IGBP1, AP1S2, ABCC6, RBPJ, IKBKG, IL1RAPL1, ABCC9, INSR, IRF6, JAG1, KCNJ10, KLF8, KPTN, KRAS, L1CAM, LAMP2, LRP5, LZTR1, MAGEL2, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, ARHGEF6, MECP2, MEF2C, MID1, MITF, KMT2D, MTM1, TRIM37, ASPA, MYH7, NAGLU, NDP, NDUFA1, NF1, NFIX, NHS, NOG, NOTCH2, NPC1, NRAS, NRXN1, NXF5, OCRL, OPHN1, OTC, PAK3, PAX3, ATP7A, AIFM1, PDHA1, PEX1, PEX10, PEX12, PEX6, ATRX, KIF1A, PGK1, PHKA1, PHKA2, PHKB, PHKG2, PIK3CA, PIK3R2, PITX1, PLP1, PLXND1, POR, PQBP1, PRPS1, PTCH1, PTEN, PTPN11, PEX2, PYGL, PYGM, RAD21, RAF1, RAI1, RASA1, RASA2, RBM10, RECQL4, REV3L Specificity 1 % Genes 100 %
BCL11A. By Fulgent Genetics Fulgent Genetics (United States). BCL11A Specificity 100 % Genes 100 %
Onco microarray for CLL. By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center (United States). BCL6, TP53, BCL11A, CCND1, FGF2, AKT1, ALK, IGH, ITK, MYB, MYBL1, MYC, ATM, BCL10, BCL3 Specificity 7 % Genes 100 %
Autism Spectrum Disorders Panel. By Blueprint Genetics (Finland). RPL10, TCF20, TRIP12, TSC1, TSC2, BCL11A, CACNA1C, NSD1, NLGN4X, NLGN3, SHANK3, ADNP, POGZ, CNTN6, COL4A3BP, KMT5B, CTNND2, PTCHD1, DHCR7, CC2D1A , (...) View the complete list with 6 more genes Panel complete gene list RPL10, TCF20, TRIP12, TSC1, TSC2, BCL11A, CACNA1C, NSD1, NLGN4X, NLGN3, SHANK3, ADNP, POGZ, CNTN6, COL4A3BP, KMT5B, CTNND2, PTCHD1, DHCR7, CC2D1A, EN2, FOXP1, GAMT, MECP2, CNOT3, PTEN Specificity 4 % Genes 100 %

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Sources and references

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