Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3; Ihprf3

Description

TBCK-related intellectual disability syndrome is a rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.

Genes related to Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3; Ihprf3

TBCK

Clinical Features

Top most frequent phenotypes and symptoms related to Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3; Ihprf3

Seizures
Global developmental delay
Generalized hypotonia
Abnormal facial shape
Cognitive impairment
Visual impairment
Peripheral neuropathy
Delayed speech and language development
Macrocephaly
Anteverted nares

And another 36 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3; Ihprf3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Leukodystrophy / Leukencephalopathy and differential diagnoses Panel. By CeGaT GmbH in Germany. AARS2, PC, TYROBP, ATP7A, ATP7B, AUH, BCS1L, C12orf65, MMACHC, HSD17B4, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, FOXRED1, NDUFAF2, NDUFA12, NDUFA9 , (...) View the complete list with 155 more genes Panel GTR000522492 complete gene list AARS2, PC, TYROBP, ATP7A, ATP7B, AUH, BCS1L, C12orf65, MMACHC, HSD17B4, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, FOXRED1, NDUFAF2, NDUFA12, NDUFA9, TMEM70, NDUFAF1, HMGCL, TTC19, NUBPL, SCP2, SLC25A12, SUCLA2, DARS2, TUFM, GFM1, SCO2, TYMP, D2HGDH, ABCD1, HEXA, ALDH3A2, PHYH, ACOX1, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, SDHAF1, NDUFA1, NDUFS1, NDUFV1, NDUFS2, NDUFAF5, GALC, L2HGDH, GBE1, ETFB, ETFA, ETFDH, GCDH, LRPPRC, COX6B1, CYP27A1, TACO1, FARS2, MTFMT, SDHA, AGA, ARSA, ASPA, EIF2B1, GJC2, GLA, IDS, NPC1, NPC2, PLP1, PRF1, FKTN, PEX2, PEX7, MLC1, MCOLN1, PEX1, POMGNT1, SLC17A5, SUMF1, EIF2B5, PHGDH, PLA2G6, ZFYVE26, EIF2B3, EIF2B2, EIF2B4, SPG11, NOTCH3, FKRP, CYP7B1, FA2H, SPART, SPG21, POMT2, POMT1, LAMA2, LARGE1, FOLR1, KCNT1, COL4A1, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, GFAP, HTRA1, ERCC2, ERCC3, POLR1C, SOX10, PEX6, FUCA1, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, NEU1, SLC16A2, CLCN2, AARS, GAN, GMPPB, ERCC6, IFIH1, TUBB4A, DDHD2, ADAR, AP4E1, RNASET2, CTC1, COX10, CSF1R, TREM2, EARS2, ERCC8, UNC13D, STX11, STXBP2, OCLN, HEPACAM, IBA57, SLC25A1, PYCR2, BCAP31, RARS, LMNB1, POLR3A, POLR3B, PET100, APOPT1, PSAT1, FAM126A, COL4A2, PEX11B, AIMP1, DARS, ISCA2, VPS11, PLEKHG2, NADK2, TBCK Specificity 1 % Genes 100 %
Leukodystrophy / Leukoencephalopathy Panel. By CeGaT GmbH in Germany. AARS2, TYROBP, HSD17B4, PSAP, HSPD1, SCP2, DARS2, ABCD1, ALDH3A2, ACOX1, GALC, L2HGDH, GBE1, GCDH, CYP27A1, ARSA, ASPA, EIF2B1, GJC2, PLP1 , (...) View the complete list with 56 more genes Panel GTR000551348 complete gene list AARS2, TYROBP, HSD17B4, PSAP, HSPD1, SCP2, DARS2, ABCD1, ALDH3A2, ACOX1, GALC, L2HGDH, GBE1, GCDH, CYP27A1, ARSA, ASPA, EIF2B1, GJC2, PLP1, PEX2, PEX7, MLC1, PEX1, SLC17A5, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, GFAP, HTRA1, POLR1C, SOX10, PEX6, FUCA1, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, SLC16A2, CLCN2, AARS, IFIH1, TUBB4A, ADAR, RNASET2, CTC1, CSF1R, TREM2, EARS2, HEPACAM, PYCR2, BCAP31, RARS, LMNB1, POLR3A, POLR3B, FAM126A, PEX11B, AIMP1, DARS, VPS11, PLEKHG2, TBCK Specificity 2 % Genes 100 %
Epileptic Encephalopathy Panel. By Blueprint Genetics in Finland. HTT, MTHFR, UBE3A, ADSL, CPT2, POLG, NDUFS4, MECP2, DNM1L, TTC19, NUBPL, ABAT, GAMT, STXBP1, SLC25A22, GLDC, AMT, ETHE1, D2HGDH, SLC9A6 , (...) View the complete list with 108 more genes Panel GTR000552752 complete gene list HTT, MTHFR, UBE3A, ADSL, CPT2, POLG, NDUFS4, MECP2, DNM1L, TTC19, NUBPL, ABAT, GAMT, STXBP1, SLC25A22, GLDC, AMT, ETHE1, D2HGDH, SLC9A6, ALDH7A1, NDUFS8, NDUFS7, NDUFAF6, MOCS1, SDHAF1, NDUFV1, NDUFS2, HIBCH, LRPPRC, COX6B1, WWOX, FARS2, SLC6A8, MTFMT, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, SYNGAP1, TSC1, SCN1A, CACNA1A, KIF1A, GABRB3, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, SLC35A2, GABRB2, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, PNPO, CHD2, GABRA1, GABRG2, GRIN2A, MBD5, ALG13, TBC1D24, BRAT1, DCX, FLNA, HNRNPU, EEF1A2, KCNA2, DNM1, SIK1, SNAP25, PURA, KCNB1, SLC13A5, DOCK7, SZT2, GNAO1, WDR45, ST3GAL3, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2B, CNTNAP2, ARHGEF9, SYN1, CASK, ZEB2, TREX1, CLCN4, NECAP1, ADAR, SCO1, HEPACAM, ASNS, SLC25A1, TBCE, SERAC1, TBCD, UBA5, ECHS1, FGF12, APOPT1, SLC12A5, GPHN, FAR1, UNC80, NACC1, LYRM7, HECW2, GTPBP3, MRPL44, RMND1, TBCK Specificity 1 % Genes 100 %
Comprehensive Epilepsy Panel. By Blueprint Genetics in Finland. HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...) View the complete list with 263 more genes Panel GTR000552774 complete gene list HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2, DNM1L, NFU1, TTC19, NUBPL, ABAT, GAMT, STXBP1, DARS2, CTSD, SLC25A22, GFM1, GRN, GLDC, AMT, ETHE1, D2HGDH, AIFM1, SLC9A6, ABCD1, SUOX, ALDH5A1, ALDH3A2, ALDH7A1, PTS, QDPR, COX15, NDUFS8, NDUFS7, NDUFAF6, MOCS1, SDHAF1, NDUFV1, NDUFS2, NDUFAF5, HIBCH, GALC, SLC25A15, L2HGDH, ETFB, ETFA, ETFDH, GCDH, LRPPRC, COX6B1, CYP27A1, TPP1, CLN3, WWOX, FARS2, SLC6A8, MTFMT, AGA, ARSA, ASPA, ARX, CDKL5, EIF2B1, FOXG1, GJC2, MEF2C, PCDH19, PLP1, SLC2A1, TSC2, SYNGAP1, TSC1, CLN6, CLN8, PPT1, MLC1, SUMF1, CLN5, EIF2B5, DPYD, ZFYVE26, EIF2B3, EIF2B2, EIF2B4, CSTB, SCN1A, NOTCH3, CACNA1A, GCH1, CASR, KIF1A, FA2H, KCNA1, CACNB4, ATP1A3, CACNA1H, CHRNB2, EFHC1, LGI1, GABRB3, GOSR2, NHLRC1, KCTD7, PRICKLE1, SCN9A, SLC19A3, ST3GAL5, SCN1B, SCN2A, SYNJ1, STX1B, SLC35A2, SLC6A1, FOLR1, GABRB2, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, KCNC1, PNPO, CHRNA2, CHRNA4, CHD2, EPM2A, GABRA1, GABRG2, GRIN2A, MBD5, SCARB2, ALG13, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, BRAT1, PIGO, COL4A1, DCX, RELN, FLNA, CTSF, DNAJC5, MFSD8, ATP13A2, MAGI2, HNRNPU, TBL1XR1, SPATA5, EEF1A2, KCNA2, DNM1, SIK1, SNAP25, PURA, KCNB1, SLC13A5, DOCK7, SZT2, GNAO1, WDR45, ST3GAL3, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, PIGN, PIGV, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, SERPINI1, OFD1, SMS, ATRX, IQSEC2, PHF6, GRIA3, ARHGEF9, KDM5C, SYN1, OPHN1, CASK, CUL4B, RAB39B, ZEB2, TREX1, GFAP, VPS13A, HTRA1, SOX10, MED12, NEU1, UBE2A, TAF1, CLCN4, NECAP1, CLCN2, MTOR, HACE1, TUBB4A, ADAR, AP4S1, AP4B1, AP4E1, AP4M1, PGK1, RNASET2, CTC1, MARS2, SCO1, CSF1R, SLC46A1, EARS2, DDC, HEPACAM, ASNS, IBA57, SLC25A1, GRIK2, CC2D1A, PYCR2, TBCE, SERAC1, TBCD, UBA5, GNB1, ECHS1, RARS, RNF216, FGF12, LMNB1, POLR3A, POLR3B, APOPT1, CERS1, FAM126A, DHFR, GLRB, SLC12A5, PIGT, GPHN, ECM1, AIMP1, FAR1, UNC80, DPYS, NACC1, KCNH1, DARS, LYRM7, WDR26, HECW2, GTPBP3, MRPL44, RMND1, TBCK, YY1, SLC39A8, SNORD118 Specificity 1 % Genes 100 %

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