CPT1A gene related symptoms and diseases

All the information presented here about the CPT1A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CPT1A gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Lethargy Very Common - Between 80% and 100% cases
Muscular hypotonia Very Common - Between 80% and 100% cases
Transient hyperlipidemia Very Common - Between 80% and 100% cases
Renal tubular acidosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CPT1A gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Loss of consciousness
  • Hemiplegia/hemiparesis
  • Sudden cardiac death
  • Coma
  • Hepatic failure
  • Reduced tendon reflexes
  • Neurological speech impairment
  • Elevated hepatic transaminase

And 33 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CPT1A gene

Here you will find a list of rare diseases related to the CPT1A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY


Alternate names

CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY Is also known as l-cpti deficiency, hepatic carnitine palmitoyl transferase i deficiency, carnitine palmitoyl transferase ia deficiency, hepatic carnitine palmitoyl transferase 1 deficiency, l-cpt1 deficiency, cpt1a deficiency

Description

Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.

Most common symptoms of CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY

  • Seizures
  • Muscular hypotonia
  • Hepatomegaly
  • Skeletal muscle atrophy
  • Fatigue


More info about CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY

SOURCES: OMIM ORPHANET

CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY


Alternate names

CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY Is also known as cpt deficiency, hepatic, type i, cpt i deficiency, carnitine palmitoyltransferase ia deficiency

Description

CPT I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood (Bougneres et al., 1981)

Most common symptoms of CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly


More info about CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY

SOURCES: MESH OMIM


Potential gene panels for CPT1A gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

CPT1A Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the CPT1A gene.

More info about this panel

CPT1A Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the CPT1A gene.

More info about this panel

CPT1A Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the CPT1A gene.

More info about this panel

Fatty Acid Oxidation Panel (MitomeNGS) Panel

United States.

By Baylor Miraca Genetics Laboratories Fatty Acid Oxidation Panel (MitomeNGS) that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT1B CPT2 ETFA ETFB

More info about this panel

GeneAware Complete Panel Version 2 (Female) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

GeneAware Complete Panel Version 2 (Male) Panel

United States.

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel

Carnitine Palmitoyltransferase Deficiency 1A Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the CPT1A gene.

More info about this panel

Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University

This panel specifically test the CPT1A gene.

More info about this panel

Comprehensive Mitochondrial Metabolic Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3

More info about this panel

Fatty Acid Oxidation Deficiency Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Fatty Acid Oxidation Deficiency that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT1B CPT2 ETFA ETFB

More info about this panel

MetaboSeq Fatty Acid Oxidation Disorders Panel by next-generation sequencing (NGS) Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center MetaboSeq Fatty Acid Oxidation Disorders Panel by next-generation sequencing (NGS) that also includes the following genes: SLC22A5 TAZ SLC25A20 ACAD9 CPT1A CPT2 ETFA ETFB ETFDH GLUD1

More info about this panel

MetaboSeq Fatty Acid Oxidation Disorders deletion/duplication panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center MetaboSeq Fatty Acid Oxidation Disorders deletion/duplication panel that also includes the following genes: SLC22A5 TAZ SLC25A20 ACAD9 CPT1A CPT2 ETFA ETFB ETFDH HADH

More info about this panel

CPT1A Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the CPT1A gene.

More info about this panel

CPT1A Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the CPT1A gene.

More info about this panel

Carnitine Palmitoyltransferase 1A Deficiency Panel

New Zealand.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital

This panel specifically test the CPT1A gene.

More info about this panel

Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3

More info about this panel

CPT1A Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the CPT1A gene.

More info about this panel

Fatty acid metabolism/ketogenesis disorders Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Fatty acid metabolism/ketogenesis disorders that also includes the following genes: SLC22A5 SLC25A20 SLC52A3 ACAD9 CPT1A CPT1B CPT2 SLC52A2 SLC52A1 ETFA

More info about this panel

Fatty acid metabolism/ketogenesis disorders Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Fatty acid metabolism/ketogenesis disorders that also includes the following genes: SLC22A5 SLC25A20 SLC52A3 ACAD9 CPT1A CPT1B CPT2 SLC52A2 SLC52A1 ETFA

More info about this panel

CPT1A. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CPT1A gene.

More info about this panel

Carnitine Palmitoyltransferase 1A Deficiency - CPT1A1 Sequence Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia

This panel specifically test the CPT1A gene.

More info about this panel

Carnitine Palmitoyltransferase 1A Deficiency - CPT1A1 Known Point Mutation Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia

This panel specifically test the CPT1A gene.

More info about this panel

Carnitine palmitoyltransferase IA deficiency (sequence analysis of CPT1A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CPT1A gene.

More info about this panel

Carnitine deficiency (NGS panel for 6 genes) Panel

Portugal.

By CGC Genetics Carnitine deficiency (NGS panel for 6 genes) that also includes the following genes: SLC22A5 SLC25A20 CPT1A CPT1B CPT2 ACADM

More info about this panel

Carnitine Palmitoyltransferase IA Deficiency Panel

Netherlands.

By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center

This panel specifically test the CPT1A gene.

More info about this panel

Hyperammonemia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hyperammonemia Sequencing Panel with CNV Detection that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SLC25A20 NAGS MMAA MMAB CPT1A CPT2

More info about this panel

Carnitine Palmitoyltransferase 1A Deficiency via CPT1A Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CPT1A gene.

More info about this panel

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel that also includes the following genes: RYR1 SLC22A5 SUCLA2 TAZ TWNK TK2 LPIN1 SLC25A20 RBCK1 COQ8A

More info about this panel

Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Disorders of Fatty Acid Oxidation Sequencing Panel with CNV Detection that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT2 FLAD1 DECR1 ECHS1

More info about this panel

Newborn: Cardiomyopathy as presenting sign Panel

Germany.

By MGZ Medical Genetics Center Newborn: Cardiomyopathy as presenting sign that also includes the following genes: SCO2 SDHA SLC22A5 SLC25A3 TAZ TTN LPIN1 GFM1 SLC25A20 MTO1

More info about this panel

Heart Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Mitochondrial Diseases Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Diseases that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SLC19A2 SLC22A5 SLC25A12

More info about this panel

Mitochondrial Cardiomyopathy Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Cardiomyopathy that also includes the following genes: SCO2 SDHA SLC22A5 SLC25A3 TAZ GFM1 SLC25A20 MTO1 AARS2 ACAD9

More info about this panel

Mitochondrial Hepato(encephalo)pathy and Phenocopies Panel

Germany.

By MGZ Medical Genetics Center Mitochondrial Hepato(encephalo)pathy and Phenocopies that also includes the following genes: BCS1L SCO1 SUCLG1 TWNK TSFM GFM1 ABHD5 CPT1A TRMU DGUOK

More info about this panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Germany.

By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5

More info about this panel

Infancy: Cardiomyopathies Panel

Germany.

By MGZ Medical Genetics Center Infancy: Cardiomyopathies that also includes the following genes: SCO2 SDHA SLC22A5 SLC25A3 TAZ SLC25A20 MTO1 AARS2 ACAD9 AGK

More info about this panel

Comprehensive mitochondrial disorders panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC

More info about this panel

CentoICU platinum plus Panel

Germany.

By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

New Born testing (CentoICU) Panel

Germany.

By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC

More info about this panel

CPT deficiency (hepatic) type IA Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CPT1A gene.

More info about this panel

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel

Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel

Estonia.

By Asper Biogene Asper Biogene LLC Mitochondrial Diseases (mtDNA and 133 nuclear genes) that also includes the following genes: BCS1L SCO1 SCO2 SDHA SLC25A4 SLC6A8 SOD1 SPG7 SUCLA2 SUCLG1

More info about this panel

Fatty Acid Oxidation Disorder Panel

Estonia.

By Asper Biogene Asper Biogene LLC Fatty Acid Oxidation Disorder that also includes the following genes: SLC22A5 TAZ SLC25A20 ACAD9 CPT1A CPT2 ETFA ETFB ETFDH GLUD1

More info about this panel

CPT deficiency, hepatic IA Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the CPT1A gene.

More info about this panel

Family Prep Screen Panel

United States.

By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5

More info about this panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

CPT deficiency, hepatic IA Panel

Slovakia.

By MedGene

This panel specifically test the CPT1A gene.

More info about this panel

Invitae Elevated C0/(C16+C18) Test Panel

United States.

By Invitae

This panel specifically test the CPT1A gene.

More info about this panel

Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel

United States.

By Invitae Invitae Metabolic Disorders Newborn Screening Confirmation Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SMPD1 BTD SPR SUCLA2 SUCLG1 TAT TAZ

More info about this panel

Invitae Fatty Acid Oxidation Defects Panel Panel

United States.

By Invitae Invitae Fatty Acid Oxidation Defects Panel that also includes the following genes: SLC22A5 SLC25A20 CPT1A CPT2 NADK2 ETFA ETFB ETFDH HADH HADHA

More info about this panel

Carnitine type 1 deficiency: CPT1A gene screening Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CPT1A gene.

More info about this panel

Carnitine type 1 deficiency: CPT1A gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CPT1A gene.

More info about this panel

Carnitine Palmitoyltransferase 1A Deficiency: CPT1A Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the CPT1A gene.

More info about this panel

Carnitine Palmitoyltransferase 1A Deficiency: CPT1A Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the CPT1A gene.

More info about this panel

Inherited Metabolic Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1

More info about this panel

Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6

More info about this panel

Arrhythmia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Arrhythmia NGS Panel that also includes the following genes: RYR2 SCN1B SCN4B SCN5A SNTA1 TGFB3 CACNA1C CACNA2D1 CACNB2 SLC25A20

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

Fatty Acid Oxidation Deficiency NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Fatty Acid Oxidation Deficiency NGS Panel that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT1B CPT2 ETFA ETFB

More info about this panel

CPT1A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CPT1A gene.

More info about this panel

Hyperammonemia and Urea Cycle Disorder Panel Panel

Finland.

By Blueprint Genetics Hyperammonemia and Urea Cycle Disorder Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SUCLA2 SUCLG1 UMPS SLC25A20 NBAS NAGS

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Fatty Acid Oxidation Syndrome Panel Panel

Finland.

By Blueprint Genetics Fatty Acid Oxidation Syndrome Panel that also includes the following genes: SLC22A5 TAZ LPIN1 SLC25A20 ACAD9 CPT1A CPT2 ECHS1 ETFA ETFB

More info about this panel

CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY Panel

Spain.

By Bioarray

This panel specifically test the CPT1A gene.

More info about this panel

Baby Genes Targeted Panel Panel

United States.

By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

More info about this panel

CARNITINE PALMITOYL TRANSFERASE DEFICIENCY Panel

Spain.

By Laboratorio de Genetica Clinica SL CARNITINE PALMITOYL TRANSFERASE DEFICIENCY that also includes the following genes: CPT1A CPT2

More info about this panel

Carnitine Palmitoyl Transferase Deficiency Type IA , Sequencing CPT1A Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CPT1A gene.

More info about this panel

Fatty Acid Oxidation Related Disorders , Panel Massive Sequencing (NGS) 19 Genes Panel

Spain.

By Reference Laboratory Genetics Fatty Acid Oxidation Related Disorders , Panel Massive Sequencing (NGS) 19 Genes that also includes the following genes: SLC22A5 TAZ SLC25A20 ACAD9 CPT1A CPT2 ETFA ETFB ETFDH GLUD1

More info about this panel

CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2

More info about this panel

CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG

More info about this panel

Hepatic carnitine palmitoyl transferase deficiency Type IA: Full gene sequencing (Rapid testing) Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the CPT1A gene.

More info about this panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel


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