Megalencephalic Leukoencephalopathy With Subcortical Cysts 1; Mlc1

Description

Megalencephalic leukoencephalopathy with subcortical cysts is a leukodystrophy characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline (summary by Lopez-Hernandez et al., 2011). Genetic Heterogeneity of Megalencephalic Leukoencephalopathy with Subcortical CystsSee also MLC2A (OMIM ), which is caused by homozygous or compound heterozygous mutation in the HEPACAM gene (OMIM ), and MLC2B (OMIM ), which is caused by heterozygous mutation in the HEPACAM gene.

Clinical Features

Top most frequent phenotypes and symptoms related to Megalencephalic Leukoencephalopathy With Subcortical Cysts 1; Mlc1

  • Seizures
  • Pica
  • Ataxia
  • Motor delay
  • Spasticity
  • Nevus
  • Macrocephaly
  • Tics
  • Intellectual disability, mild
  • Encephalopathy
And another 11 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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Megalencephalic Leukoencephalopathy With Subcortical Cysts 1; Mlc1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
50 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
50 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)

View the complete list with 150 more genes
Specificity
2 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
MLC1-Related Megalencephalic Leukoencephalopathy with Subcortical Cysts.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

MLC1
Specificity
100 %
Genes
50 %
MLC1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MLC1
Specificity
100 %
Genes
50 %
MLC1. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

MLC1
Specificity
100 %
Genes
50 %
Megalencephalic Leukoencephalopathy with Subcortical Cysts 1.

By Center for Childhood White Matter Disorders Vrije Universiteit Medical Center in Netherlands.

MLC1
Specificity
100 %
Genes
50 %
Macrocephaly (NGS panel for 16 genes).

By CGC Genetics in Portugal.

PTEN, ASPA, NSD1, GPC3, MLC1, PIGA, PIGN, GFAP, MED12, NFIX, EZH2, PIK3CA, DHCR24, PIK3R2, AKT3, HEPACAM
Specificity
13 %
Genes
100 %
Megalencephalic leukoencephalopathy with subcortical cysts (sequence analysis of MLC1 gene).

By CGC Genetics in Portugal.

MLC1
Specificity
100 %
Genes
50 %
Megalencephalic leukoencephalopathy with subcortical cysts (deletion/duplication analysis of MLC1 gene).

By CGC Genetics in Portugal.

MLC1
Specificity
100 %
Genes
50 %
Cystic Megalencephaly - MLC1 Gene Sequencing.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

MLC1
Specificity
100 %
Genes
50 %
Megalencephalic Leukoencephalopathy with Subcortical Cysts via MLC1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MLC1
Specificity
100 %
Genes
50 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

PC, TYROBP, ATP7A, ATP7B, TWNK, ADSL, HSD17B4, CPS1, PSAP, GLB1, OCRL, POLG, NDUFS4, HSPD1, SLC25A4, RRM2B, FH, COQ9, DNM1L, DGUOK , (...)

View the complete list with 134 more genes
Specificity
2 %
Genes
100 %
Megalencephalic Leukoencephalopathy with Subcortical Cysts Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

MLC1, HEPACAM
Specificity
100 %
Genes
100 %
Macrocephaly.

By MGZ Medical Genetics Center in Germany.

PTEN, ASPA, TSC2, TSC1, NSD1, PTCH1, CDKN1C, GPC3, MLC1, EIF2B5, L1CAM, WASHC5, SETD2, OFD1, GRIA3, SYN1, CUL4B, RAB39B, GFAP, MED12 , (...)

View the complete list with 22 more genes
Specificity
5 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
100 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, RECQL4, AGL, ATP7A, GAA, LRP5, SLC37A4, GNPTAB, GLB1, HSD17B10, OCRL, JAG1, NDP, HPRT1, NHS, RAF1, SMPD1, MECP2 , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
100 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
100 %
Megalencephalic leukoencephalopathy with subcortical cysts.

By Centogene AG - the Rare Disease Company in Germany.

MLC1
Specificity
100 %
Genes
50 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Leukodystrophy / Leukencephalopathy Panel.

By CeGaT GmbH in Germany.

PSAP, HSPD1, ABCD1, GALC, L2HGDH, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FOLR1, SAMHD1, RNASEH2A , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
100 %
Macrocephaly Panel.

By CeGaT GmbH in Germany.

PTEN, GCDH, ASPA, NSD1, GPC3, MLC1, PIGA, PIGN, GFAP, MED12, NFIX, EZH2, PIK3CA, DHCR24, PIK3R2, AKT3, HEPACAM
Specificity
12 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Panel.

By CeGaT GmbH in Germany.

PSAP, HSPD1, ABCD1, GALC, L2HGDH, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FOLR1, SAMHD1, RNASEH2A , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
100 %
Macrocephaly Panel.

By CeGaT GmbH in Germany.

PTEN, GCDH, ASPA, NSD1, GPC3, MLC1, PIGA, PIGN, GFAP, MED12, NFIX, EZH2, PIK3CA, DHCR24, PIK3R2, AKT3, HEPACAM
Specificity
12 %
Genes
100 %
Hereditary Degenerative Syndromes Panel.

By CeGaT GmbH in Germany.

HTT, ATP7A, ATP7B, AUH, HPRT1, NDUFS4, PANK2, SMPD1, MECP2, SUCLA2, TIMM8A, HEXA, SLC25A15, GCDH, CYP27A1, PRKN, CLN3, ARSA, ARX, FOXG1 , (...)

View the complete list with 29 more genes
Specificity
5 %
Genes
100 %
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
Specificity
2 %
Genes
100 %
Dystonia All Panel.

By CeGaT GmbH in Germany.

ATP7A, ATP7B, AUH, PANK2, MECP2, SPR, TIMM8A, HEXA, SLC25A15, GCDH, CYP27A1, PRKN, CLN3, PNKD, ARSA, ARX, NPC1, NPC2, SLC2A1, ATM , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
50 %
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
Specificity
3 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy.

By Asper Biogene Asper Biogene LLC in Estonia.

PSAP, HSPD1, SCP2, DARS2, ABCD1, GALC, L2HGDH, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, SUMF1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3, FOLR1 , (...)

View the complete list with 19 more genes
Specificity
6 %
Genes
100 %
Megalencephalic Leukoenzephalopathy with subcortical cysts.

By Praxis fuer Humangenetik Wien in Austria.

MLC1
Specificity
100 %
Genes
50 %
Family Prep Screen.

By Counsyl in United States.

F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
50 %
Megalencephalic Leukoenzephalopathy with subcortical cysts.

By MedGene in Slovakia.

MLC1
Specificity
100 %
Genes
50 %
Megalencephalic leukoencephalopathy with subcortical cysts: MLC1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

MLC1
Specificity
100 %
Genes
50 %
Leukodistrophy.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TYROBP, BEST1, HSD17B4, PSAP, HSPD1, SCP2, DARS2, ABCD1, PHYH, SDHAF1, NDUFV1, GALC, CYP27A1, SDHA, ARSA, ASPA, EIF2B1, GJC2, PLP1, PEX2 , (...)

View the complete list with 38 more genes
Specificity
4 %
Genes
100 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)

View the complete list with 127 more genes
Specificity
1 %
Genes
50 %
Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, BCS1L, C12orf65, ADSL, PAX6, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, GNE, HSD17B10, TMEM67 , (...)

View the complete list with 323 more genes
Specificity
1 %
Genes
50 %
Leukoencephalopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

PTEN, PSAP, HSPD1, SCP2, ABAT, SLC25A12, DARS2, ALDH3A2, ACOX1, ARSA, ASPA, EIF2B1, GJC2, PLP1, MLC1, EIF2B5, EIF2B3, EIF2B2, EIF2B4, NOTCH3 , (...)

View the complete list with 6 more genes
Specificity
8 %
Genes
100 %
MLC1.

By Fulgent Genetics Fulgent Genetics in United States.

MLC1
Specificity
100 %
Genes
50 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
50 %
Macrocephaly / Overgrowth Syndrome Panel.

By Blueprint Genetics in Finland.

PTEN, ASPA, TSC2, TSC1, NSD1, PTCH1, CDKN1C, GPC3, MLC1, EIF2B5, L1CAM, WASHC5, SETD2, PIGA, OFD1, GRIA3, SYN1, CUL4B, RAB39B, GFAP , (...)

View the complete list with 23 more genes
Specificity
5 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Panel.

By Blueprint Genetics in Finland.

PSAP, HSPD1, FOXRED1, NFU1, TTC19, NUBPL, DARS2, GFM1, D2HGDH, AIFM1, ABCD1, ALDH3A2, COX15, SDHAF1, NDUFAF5, HIBCH, GALC, L2HGDH, COX6B1, CYP27A1 , (...)

View the complete list with 54 more genes
Specificity
3 %
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
Specificity
1 %
Genes
100 %
Megalencephalic leukoencephalopathy with subcortical cysts.

By Bioarray in Spain.

MLC1
Specificity
100 %
Genes
50 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
50 %
LEUKOENCEPHALOPATHY MEGALENCEPHALIC (VAN DER KNAAP SYNDROME).

By Laboratorio de Genetica Clinica SL in Spain.

MLC1, HEPACAM
Specificity
100 %
Genes
100 %
Megalencephalic Leukoencephalopathy with Subcortical Cysts, Sequencing MLC1 Gene.

By Reference Laboratory Genetics in Spain.

MLC1
Specificity
100 %
Genes
50 %
Megalencephalic Leukoencephalopathy with Subcortical Cysts , Deletions-Duplications (MLPA) MLC1 Gene.

By Reference Laboratory Genetics in Spain.

MLC1
Specificity
100 %
Genes
50 %
Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes.

By Reference Laboratory Genetics in Spain.

TYROBP, BEST1, HSD17B4, PSAP, HSPD1, DARS2, ABCD1, PHYH, SDHAF1, NDUFV1, GALC, CYP27A1, SDHA, ARSA, ASPA, EIF2B1, GJC2, PLP1, PEX2, PEX7 , (...)

View the complete list with 36 more genes
Specificity
4 %
Genes
100 %
Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes.

By Reference Laboratory Genetics in Spain.

PTEN, ASPA, NSD1, GPC3, MLC1, PIGA, PIGN, GFAP, MED12, NFIX, EZH2, PIK3CA, DHCR24, PIK3R2, AKT3, HEPACAM
Specificity
13 %
Genes
100 %
Megalencephalic leukoencephalopathy gene sequencing.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

MLC1
Specificity
100 %
Genes
50 %
Megalencephalic Leukoencephalopathy with Subcortical Cysts: gene deletion/duplication.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MLC1
Specificity
100 %
Genes
50 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 116 more genes
Specificity
1 %
Genes
50 %
Megalencephalic Leukoencephalopathy with Subcortical Cysts: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MLC1, HEPACAM
Specificity
100 %
Genes
100 %
Macrocephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

PTEN, NSD1, GPC3, SETD2, OFD1, CUL4B, RAB39B, MED12, UPF3B, BRWD3, NFIX, EZH2, RNF135, GLI3, KPTN, HERC1, NFIA, RNF125, TBC1D7, HEPACAM , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Macrocephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

PTEN, NSD1, GPC3, SETD2, OFD1, CUL4B, RAB39B, MED12, UPF3B, BRWD3, NFIX, EZH2, RNF135, GLI3, KPTN, HERC1, NFIA, RNF125, TBC1D7, HEPACAM , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
HEPACAM-Related Megalencephalic Leukoencephalopathy with Subcortical Cysts.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States.

HEPACAM
Specificity
100 %
Genes
50 %
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a.

By Center for Childhood White Matter Disorders Vrije Universiteit Medical Center in Netherlands.

HEPACAM
Specificity
100 %
Genes
50 %
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b.

By Center for Childhood White Matter Disorders Vrije Universiteit Medical Center in Netherlands.

HEPACAM
Specificity
100 %
Genes
50 %
Megalencephalic leukoencephalopathy with subcortical cysts (sequence analysis of HEPACAM gene).

By CGC Genetics in Portugal.

HEPACAM
Specificity
100 %
Genes
50 %
Megalencephalic Leukoencephalopathy with Subcortical Cysts via HEPACAM Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HEPACAM
Specificity
100 %
Genes
50 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
50 %
Megalencephalic leukoencephalopathy with subcortical cysts 2A.

By Centogene AG - the Rare Disease Company in Germany.

HEPACAM
Specificity
100 %
Genes
50 %
Megalencephalic leukoencephalopathy with subcortical cysts 2A: HEPACAM gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

HEPACAM
Specificity
100 %
Genes
50 %
HEPACAM - Gene sequencing.

By Genome Diagnostics VU University Medical Center in Netherlands.

HEPACAM
Specificity
100 %
Genes
50 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
50 %
HEPACAM.

By Fulgent Genetics Fulgent Genetics in United States.

HEPACAM
Specificity
100 %
Genes
50 %
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
Specificity
1 %
Genes
50 %
Megalencephalic Leukoencephalopathy with Subcortical Cysts Type 2A , Sequencing HEPACAM Gene.

By Reference Laboratory Genetics in Spain.

HEPACAM
Specificity
100 %
Genes
50 %

Alternate names

Megalencephalic Leukoencephalopathy With Subcortical Cysts 1; Mlc1 Is also known as vacuolating megalencephalic leukoencephalopathy with subcortical cysts, lvm, vl, leukoencephalopathy with swelling and cysts, van der knaap disease;mlc; megalencephalic leukodystrophy; megalencephaly-cystic leukodystrophy syndrome; vacuolating megalencephalic leukoencephalopathy with subcortical cysts; van der knaap syndrome.



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