Renal Tubular Acidosis, Distal, Autosomal Recessive; Rtadr

Description

Autosomal recessive distal renal tubular acidosis (AR dRTA) is an inherited form of distal renal tubular acidosis (dRTA; see this term) characterized by hypokalemic hyperchloremic metabolic acidosis. Deafness often occurs either early or later on in life but may be absent or never be diagnosed.

Clinical Features

Top most frequent phenotypes and symptoms related to Renal Tubular Acidosis, Distal, Autosomal Recessive; Rtadr

  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment
  • Renal insufficiency
  • Vomiting
  • Acidosis
  • Metabolic acidosis
  • Bilateral sensorineural hearing impairment
  • Nephrolithiasis
And another 9 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.


Mendelian

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Renal Tubular Acidosis, Distal, Autosomal Recessive; Rtadr Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

ABHD12, USH1G, USH1C, ANKH, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 151 more genes
Specificity
1 %
Genes
50 %
NGS Hearing Loss Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

USH1G, USH1C, EYA1, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, MAN2B1, HARS2 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
50 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States.

USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
50 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ABHD12, USH1G, USH1C, ANKH, BTD, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, FOXC1, PITX2, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
50 %
Renal tubular acidosis, distal, autosomal recessive with nerve deafness.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

ATP6V1B1
Specificity
100 %
Genes
50 %
ATP6V1B1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ATP6V1B1
Specificity
100 %
Genes
50 %
ATP6V1B1 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ATP6V1B1
Specificity
100 %
Genes
50 %
OtoGenome Test for Hearing Loss (110 Genes).

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, DIABLO, MSRB3, KARS, MYO7A , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
50 %
ExomePLUS Electrolyte & Kidney Stone.

By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.

OCRL, HPRT1, CYP11B2, FAH, CYP24A1, AGXT, FAM20C, APRT, VDR, CDC73, CTNS, GRHPR, CASR, HSD11B2, AVPR2, AQP2, PHEX, SLC12A3, SCNN1A, SCNN1B , (...)

View the complete list with 29 more genes
Specificity
5 %
Genes
100 %
ATP6V1B1. Complete sequencing.

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

ATP6V1B1
Specificity
100 %
Genes
50 %
Audiome (hearing loss panel).

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ABHD12, USH1G, USH1C, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, MSRB3, SUCLA2 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
50 %
Syndromic deafness (NGS panel for 62 genes).

By CGC Genetics in Portugal.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
50 %
Syndromic and non syndromic deafness (NGS panel for 127 genes).

By CGC Genetics in Portugal.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, EYA4, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3 , (...)

View the complete list with 107 more genes
Specificity
1 %
Genes
50 %
Renal tubular acidosis, distal (sequence analysis of ATP6V1B1 gene).

By CGC Genetics in Portugal.

ATP6V1B1
Specificity
100 %
Genes
50 %
Renal tubular acidosis, distal, AR (NGS panel for 3 genes).

By CGC Genetics in Portugal.

ATP6V1B1, SLC4A1, ATP6V0A4
Specificity
67 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
2 %
Genes
100 %
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).

By CGC Genetics in Portugal.

GAA, PPARG, AMACR, HSD17B4, CLCN7, PSAP, GNPTAB, GLB1, ATP6V0A2, SMPD1, HPS1, DNM1L, BLOC1S3, HPS6, SCP2, CTSD, AP3B1, GRN, AGPS, LMBRD1 , (...)

View the complete list with 88 more genes
Specificity
2 %
Genes
100 %
Renal tubular acidosis with progressive nerve deafness.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

ATP6V1B1
Specificity
100 %
Genes
50 %
Distal Renal Tubular Acidosis with Sensorineural Deafness via ATP6V1B1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ATP6V1B1
Specificity
100 %
Genes
50 %
Distal Renal Tubular Acidosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CA2, ATP6V1B1, SLC4A1, ATP6V0A4
Specificity
50 %
Genes
100 %
Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
100 %
Nephrolithiasis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
7 %
Genes
100 %
Nephrolithiasis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
7 %
Genes
100 %
Nephrolithiasis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
7 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
Bartter Syndrome panel.

By Centogene AG - the Rare Disease Company in Germany.

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, SLC4A4, NR3C2, KLHL3, SLC4A1, WNK4 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
Renal tubular acidosis with deafness.

By Centogene AG - the Rare Disease Company in Germany.

ATP6V1B1
Specificity
100 %
Genes
50 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
50 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
50 %
Syndromic Hearing Loss Panel.

By CeGaT GmbH in Germany.

ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
50 %
Renal tubular acidosis Panel.

By CeGaT GmbH in Germany.

CA2, ATP6V1B1, SLC4A4, SLC4A1, ATP6V0A4
Specificity
40 %
Genes
100 %
Single gene testing ATP6V1B1.

By CeGaT GmbH in Germany.

ATP6V1B1
Specificity
100 %
Genes
50 %
Renal tubular acidosis with progressive nerve deafness.

By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology in Greece.

ATP6V1B1
Specificity
100 %
Genes
50 %
Renal tubular acidosis, distal, autosomal recessive.

By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology in Greece.

ATP6V1B1
Specificity
100 %
Genes
50 %
Sensorineural Hearing Loss.

By Asper Biogene Asper Biogene LLC in Estonia.

USH1G, USH1C, PDZD7, EYA4, TRMU, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, MYO7A, GJB2, GJB6, POU3F4, BSND , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
50 %
Renal tubular Acidosis with progressive nerve deafness: ATP6V1B1 gene sequence analysis.

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

ATP6V1B1
Specificity
100 %
Genes
50 %
BARTTER SYNDROME.

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

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, SLC4A4, NR3C2, KLHL3, SLC4A1, WNK4 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
Hearing Loss: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, USH1G, USH1C, BTD, EYA1, COL2A1, EYA4, HSD17B4, OPA1, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO , (...)

View the complete list with 111 more genes
Specificity
1 %
Genes
50 %
Hearing Loss: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, USH1G, USH1C, BTD, EYA1, EYA4, HSD17B4, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, CISD2 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
50 %
Hearing Loss NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

USH1G, USH1C, BCS1L, EYA1, PDZD7, EYA4, TRMU, WFS1, JAG1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, GJB2 , (...)

View the complete list with 83 more genes
Specificity
1 %
Genes
50 %
ATP6V1B1.

By Fulgent Genetics Fulgent Genetics in United States.

ATP6V1B1
Specificity
100 %
Genes
50 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15 , (...)

View the complete list with 159 more genes
Specificity
1 %
Genes
50 %
Syndromic Hearing Loss Panel.

By Blueprint Genetics in Finland.

ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
50 %
Renal Tubular Acidosis Panel.

By Blueprint Genetics in Finland.

CA2, ATP6V1B1, SLC4A4, SLC4A1, ATP6V0A4
Specificity
40 %
Genes
100 %
Nephrolithiasis Panel.

By Blueprint Genetics in Finland.

ALPL, SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, MOCS1, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11 , (...)

View the complete list with 15 more genes
Specificity
6 %
Genes
100 %
Bartter syndrome.

By Bioarray in Spain.

ATP6V1B1
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 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel.

By Otogenetics in United States.

USH1G, USH1C, BCS1L, PDZD7, EYA4, WFS1, JAG1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, SOX2, FGFR3 , (...)

View the complete list with 109 more genes
Specificity
1 %
Genes
50 %
Autosomal Recessive Renal Tubular Acidosis with Progressive Nerve Deafness, Sequencing ATP6V1B1 Gene.

By Reference Laboratory Genetics in Spain.

ATP6V1B1
Specificity
100 %
Genes
50 %
Autosomal Recessive Renal Tubular Acidosis with Progressive Nerve Deafness, Massive Sequencing (NGS) ATP6V1B1, ATP6V0A4 Genes.

By Reference Laboratory Genetics in Spain.

ATP6V1B1, ATP6V0A4
Specificity
100 %
Genes
100 %
Bartter Syndrome and related disorders , Panel Massive Sequencing (NGS) 22 Genes.

By Reference Laboratory Genetics in Spain.

CA2, WNK1, CASR, HSD11B2, SLC12A3, SCNN1A, SCNN1G, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, KCNJ10, ATP6V1B1, CLCNKA, NR3C2, KLHL3, SLC4A1, WNK4, CLDN16 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Renal Tubular Acidosis, Panel Massive Sequencing (NGS) ATP6V0A4, ATP6V1B1, CA2, SLC4A1, SLC4A4 Genes.

By Reference Laboratory Genetics in Spain.

CA2, ATP6V1B1, SLC4A4, SLC4A1, ATP6V0A4
Specificity
40 %
Genes
100 %
Renal Tubular Acidosis, Distal, Autosomal Recessive.

By Genetics Laboratory University of Oklahoma Health Sciences Center in United States.

ATP6V0A4
Specificity
100 %
Genes
50 %
ATP6V0A4 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

ATP6V0A4
Specificity
100 %
Genes
50 %
ATP6V0A4. Complete sequencing.

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

ATP6V0A4
Specificity
100 %
Genes
50 %
Renal tubular acidosis, distal, AR (sequence analysis of ATP6V0A4 gene).

By CGC Genetics in Portugal.

ATP6V0A4
Specificity
100 %
Genes
50 %
Renal tubular acidosis, distal, autosomal recessive.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

ATP6V0A4
Specificity
100 %
Genes
50 %
Distal Renal Tubular Acidosis, Autosomal Recessive, via the ATP6V0A4 Gene.

By PreventionGenetics PreventionGenetics in United States.

ATP6V0A4
Specificity
100 %
Genes
50 %
Polycystic kidney disease and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

INVS, LRP5, HNF1B, NPHP3, ALG9, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, OFD1, TMEM231, GLIS3, ATP6V0A4, NOTCH2, ZNF423, ANKS6, MUC1, SEC61A1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Polycystic kidney disease and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

INVS, LRP5, HNF1B, NPHP3, ALG9, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, OFD1, TMEM231, GLIS3, ATP6V0A4, NOTCH2, ZNF423, ANKS6, MUC1, SEC61A1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Polycystic kidney disease and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

INVS, LRP5, HNF1B, NPHP3, ALG9, TSC2, TSC1, PKHD1, UMOD, PKD2, PKD1, OFD1, TMEM231, GLIS3, ATP6V0A4, NOTCH2, ZNF423, ANKS6, MUC1, SEC61A1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
50 %
Renal tubular acidosis, distal, autosomal recessive.

By Centogene AG - the Rare Disease Company in Germany.

ATP6V0A4
Specificity
100 %
Genes
50 %
Single gene testing ATP6V0A4.

By CeGaT GmbH in Germany.

ATP6V0A4
Specificity
100 %
Genes
50 %
ATP6V0A4.

By Fulgent Genetics Fulgent Genetics in United States.

ATP6V0A4
Specificity
100 %
Genes
50 %
Autosomal recessive distal renal tubular acidosis without deafness.

By Bioarray in Spain.

ATP6V0A4
Specificity
100 %
Genes
50 %
RENAL TUBULAR ACIDOSIS, DISTAL (AUTOSOMAL RECESSIVE).

By Laboratorio de Genetica Clinica SL in Spain.

ATP6V0A4
Specificity
100 %
Genes
50 %
Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes.

By Reference Laboratory Genetics in Spain.

ALPL, ANKH, SLC34A1, OCRL, FAH, SLC9A3R1, CYP27B1, FAM20C, VDR, CTNS, CASR, HNF4A, PHEX, FGF23, TJP2, PTH1R, ABCC6, SLC4A1, ATP6V0A4, BAAT , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
50 %

Alternate names

Renal Tubular Acidosis, Distal, Autosomal Recessive; Rtadr Is also known as rta, distal, autosomal recessive, renal tubular acidosis, autosomal recessive, with preserved hearing;ar drta; autosomal recessive distal rta.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SUPRAVALVULAR AORTIC STENOSIS; SVAS SPERMATOGENIC FAILURE 6; SPGF6 MYOTONIA, POTASSIUM-AGGRAVATED CORTICAL MALFORMATIONS, OCCIPITAL; OCCM ATYPICAL WERNER SYNDROME ATELOSTEOGENESIS, TYPE III; AO3 HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA; HH13

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