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Diagnosis of Metabolic Disorders (whole exome sequencing)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 30/05/2018

Sectie Genoomdiagnostiek / Genome Diagnostics Nijmegen
Afdeling Genetica
Radboudumc - Radboud universitair medisch centrum
Geert Grooteplein-Zuid 10
6525 GA NIJMEGEN
NETHERLANDS
Director of laboratory : Dr H.G. [Helger] IJNTEMA
More information

Phone : +31 (0)24 361 3799
Additional Phone : -
Fax : +31 (0)24 361 6658
Website
Contact
email

Last update: May 2018

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Sequence analysis: entire coding region

Whole Exome Sequencing (WES)

List of diseases and genes (Panel description)

List of diseases tested (729)

2-aminoadipic 2-oxoadipic aciduria

2-methylbutyryl-CoA dehydrogenase deficiency

2p21 microdeletion syndrome

3-hydroxy-3-methylglutaric aciduria

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

3-methylcrotonyl-CoA carboxylase deficiency

3-methylglutaconic aciduria type 1

3-methylglutaconic aciduria type 3

3-methylglutaconic aciduria type 7

3-methylglutaconic aciduria type 8

3-methylglutaconic aciduria type 9

3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

3-phosphoserine phosphatase deficiency, infantile/juvenile form

5-oxoprolinase deficiency

6-pyruvoyl-tetrahydropterin synthase deficiency

AICA-ribosiduria

ALDH18A1-related De Barsy syndrome

ATP13A2-related juvenile neuronal ceroid lipofuscinosis

Abetalipoproteinemia

Aceruloplasminemia

Acrodermatitis enteropathica

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Acute intermittent porphyria

Acute neonatal citrullinemia type I

Acyl-CoA dehydrogenase 9 deficiency

Adenine phosphoribosyltransferase deficiency

Adenosine monophosphate deaminase deficiency

Adenylosuccinate lyase deficiency

Adrenomyeloneuropathy

Adult Krabbe disease

Adult neuronal ceroid lipofuscinosis

Adult polyglucosan body disease

Adult-onset autosomal recessive sideroblastic anemia

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Adult-onset dystonia-parkinsonism

Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency

Alacrimia-choreoathetosis-liver dysfunction syndrome

Alpers-Huttenlocher syndrome

Alpha-1-antitrypsin deficiency

Alpha-N-acetylgalactosaminidase deficiency type 1

Alpha-N-acetylgalactosaminidase deficiency type 2

Alpha-N-acetylgalactosaminidase deficiency type 3

Alpha-mannosidosis, adult form

Alpha-mannosidosis, infantile form

Amish lethal microcephaly

Apolipoprotein A-I deficiency

Argininosuccinic aciduria

Aromatic L-amino acid decarboxylase deficiency

Arthrogryposis-renal dysfunction-cholestasis syndrome

Aspartylglucosaminuria

Ataxia with vitamin E deficiency

Ataxia-oculomotor apraxia type 1

Atypical Gaucher disease due to saposin C deficiency

Atypical glycine encephalopathy

Atypical hypotonia-cystinuria syndrome

Atypical pantothenate kinase-associated neurodegeneration

Autism spectrum disorder-epilepsy-arthrogryposis syndrome

Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

Autosomal dominant dopa-responsive dystonia

Autosomal dominant mitochondrial myopathy with exercise intolerance

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy plus syndrome

Autosomal dominant optic atrophy, classic form

Autosomal dominant primary hypomagnesemia with hypocalciuria

Autosomal dominant progressive external ophthalmoplegia

Autosomal erythropoietic protoporphyria

Autosomal recessive ataxia due to ubiquinone deficiency

Autosomal recessive cerebellar ataxia with late-onset spasticity

Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency

Autosomal recessive cutis laxa type 2, classic type

Autosomal recessive cutis laxa type 2B

Autosomal recessive dopa-responsive dystonia

Autosomal recessive intermediate Charcot-Marie-Tooth disease type D

Autosomal recessive optic atrophy, OPA7 type

Autosomal recessive progressive external ophthalmoplegia

Autosomal recessive spastic ataxia with leukoencephalopathy

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Autosomal recessive spastic paraplegia type 39

Autosomal recessive spastic paraplegia type 55

Autosomal recessive spastic paraplegia type 67

Autosomal recessive spastic paraplegia type 77

Autosomal recessive spondylocostal dysostosis

B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

Benign recurrent intrahepatic cholestasis type 1

Benign recurrent intrahepatic cholestasis type 2

Beta-ketothiolase deficiency

Beta-mannosidosis

Beta-ureidopropionase deficiency

Bifunctional enzyme deficiency

Bile acid CoA ligase deficiency and defective amidation

Biotin-thiamine-responsive basal ganglia disease

Biotinidase deficiency

Björnstad syndrome

Brachytelephalangic chondrodysplasia punctata

Brain dopamine-serotonin vesicular transport disease

CHST3-related skeletal dysplasia

Carbamoyl-phosphate synthetase 1 deficiency

Cardiomyopathy-hypotonia-lactic acidosis syndrome

Carnitine palmitoyl transferase 1A deficiency

Carnitine palmitoyl transferase II deficiency, myopathic form

Carnitine palmitoyl transferase II deficiency, neonatal form

Carnitine palmitoyl transferase II deficiency, severe infantile form

Carnitine-acylcarnitine translocase deficiency

Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

Cerebrotendinous xanthomatosis

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Childhood-onset spasticity with hyperglycinemia

Cholesterol-ester transfer protein deficiency

Cholesteryl ester storage disease

Chronic visceral acid sphingomyelinase deficiency

Chylomicron retention disease

Chédiak-Higashi syndrome

Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

Citrullinemia type II

Classic galactosemia

Classic glucose transporter type 1 deficiency syndrome

Classic maple syrup urine disease

Classic pantothenate kinase-associated neurodegeneration

Classic phenylketonuria

Combined malonic and methylmalonic acidemia

Combined oxidative phosphorylation defect type 11

Combined oxidative phosphorylation defect type 13

Combined oxidative phosphorylation defect type 14

Combined oxidative phosphorylation defect type 15

Combined oxidative phosphorylation defect type 17

Combined oxidative phosphorylation defect type 2

Combined oxidative phosphorylation defect type 20

Combined oxidative phosphorylation defect type 21

Combined oxidative phosphorylation defect type 23

Combined oxidative phosphorylation defect type 24

Combined oxidative phosphorylation defect type 25

Combined oxidative phosphorylation defect type 26

Combined oxidative phosphorylation defect type 27

Combined oxidative phosphorylation defect type 30

Combined oxidative phosphorylation defect type 4

Combined oxidative phosphorylation defect type 7

Combined oxidative phosphorylation defect type 8

Combined oxidative phosphorylation defect type 9

Congenital atransferrinemia

Congenital bile acid synthesis defect type 1

Congenital bile acid synthesis defect type 2

Congenital bile acid synthesis defect type 3

Congenital bile acid synthesis defect type 4

Congenital brain dysgenesis due to glutamine synthetase deficiency

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

Congenital dyserythropoietic anemia type II

Congenital erythropoietic porphyria

Congenital glucokinase-related hyperinsulinism

Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

Congenital intrinsic factor deficiency

Congenital lactase deficiency

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

Congenital muscular dystrophy with cerebellar involvement

Congenital muscular dystrophy with intellectual disability

Congenital muscular dystrophy with intellectual disability and severe epilepsy

Congenital muscular dystrophy without intellectual disability

Congenital muscular dystrophy, Fukuyama type

Congenital myasthenic syndromes with glycosylation defect

Congenital neuronal ceroid lipofuscinosis

Congenital sialidosis type 2

Congenital sucrase-isomaltase deficiency

Constitutional megaloblastic anemia with severe neurologic disease

Crigler-Najjar syndrome type 1

Crigler-Najjar syndrome type 2

Cystathioninuria

Cystinuria type A

Cystinuria type B

D,L-2-hydroxyglutaric aciduria

D-2-hydroxyglutaric aciduria

D-glyceric aciduria

DNA2-related mitochondrial DNA deletion syndrome

DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect

Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

Desmosterolosis

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

Diamond-Blackfan anemia

Dicarboxylic aminoaciduria

Dihydropteridine reductase deficiency

Dihydropyrimidine dehydrogenase deficiency

Dihydropyrimidinuria

Dilated cardiomyopathy with ataxia

Dimethylglycine dehydrogenase deficiency

Dopa-responsive dystonia due to sepiapterin reductase deficiency

Dopamine beta-hydroxylase deficiency

Dowling-Degos disease

Dubin-Johnson syndrome

Dysbetalipoproteinemia

EGF-related primary hypomagnesemia with intellectual disability

Early myoclonic encephalopathy

Early-onset epilepsy-intellectual disability-brain anomalies syndrome

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome

Encephalopathy due to prosaposin deficiency

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

Epileptic encephalopathy with global cerebral demyelination

Erythrocyte galactose epimerase deficiency

Essential fructosuria

Ethylmalonic encephalopathy

Exercise-induced hyperinsulinism

FASTKD2-related infantile mitochondrial encephalomyopathy

FKRP-related limb-girdle muscular dystrophy R9

FTH1-related iron overload

Familial LCAT deficiency

Familial apolipoprotein C-II deficiency

Familial chylomicronemia syndrome

Familial hypercholanemia

Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

Familial lipoprotein lipase deficiency

Familial porphyria cutanea tarda

Familial renal glucosuria

Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

Familial steroid-resistant nephrotic syndrome with sensorineural deafness

Fanconi-Bickel syndrome

Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease

Fatal infantile cytochrome C oxidase deficiency

Fatal infantile lactic acidosis with methylmalonic aciduria

Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Fatty acid hydroxylase-associated neurodegeneration

Fatty acyl-CoA reductase 1 deficiency

Fetal Gaucher disease

Fish-eye disease

Formiminoglutamic aciduria

Free sialic acid storage disease, infantile form

Fructose-1,6-bisphosphatase deficiency

Fukutin-related limb-girdle muscular dystrophy R13

Fumaric aciduria

GM1 gangliosidosis type 1

GM1 gangliosidosis type 2

GM1 gangliosidosis type 3

GM2 gangliosidosis, AB variant

GM3 synthase deficiency

GMPPB-related limb-girdle muscular dystrophy R19

GRACILE syndrome

GTP cyclohydrolase I deficiency

Galactokinase deficiency

Galactosialidosis

Gamma-aminobutyric acid transaminase deficiency

Gamma-glutamyl transpeptidase deficiency

Gaucher disease type 1

Gaucher disease type 2

Gaucher disease type 3

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Generalized galactose epimerase deficiency

Genetic recurrent myoglobinuria

Glucose-galactose malabsorption

Glutamate-cysteine ligase deficiency

Glutaric acidemia type 3

Glutaryl-CoA dehydrogenase deficiency

Glutathione synthetase deficiency with 5-oxoprolinuria

Glutathione synthetase deficiency without 5-oxoprolinuria

Glycerol kinase deficiency, adult form

Glycerol kinase deficiency, juvenile form

Glycogen storage disease due to LAMP-2 deficiency

Glycogen storage disease due to acid maltase deficiency, infantile onset

Glycogen storage disease due to acid maltase deficiency, late-onset

Glycogen storage disease due to aldolase A deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form

Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form

Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form

Glycogen storage disease due to glycogen debranching enzyme deficiency

Glycogen storage disease due to hepatic glycogen synthase deficiency

Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

Glycogen storage disease due to liver glycogen phosphorylase deficiency

Glycogen storage disease due to liver phosphorylase kinase deficiency

Glycogen storage disease due to muscle and heart glycogen synthase deficiency

Glycogen storage disease due to muscle beta-enolase deficiency

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

Glycogen storage disease due to muscle phosphofructokinase deficiency

Glycogen storage disease due to muscle phosphorylase kinase deficiency

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Glycogen storage disease due to phosphoglycerate mutase deficiency

Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

Greenberg dysplasia

Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

Guanidinoacetate methyltransferase deficiency

Gyrate atrophy of choroid and retina

HJV or HAMP-related hemochromatosis

HSD10 disease, atypical type

HSD10 disease, infantile type

HSD10 disease, neonatal type

Haim-Munk syndrome

Hartnup disease

Hemolytic anemia due to diphosphoglycerate mutase deficiency

Hemolytic anemia due to glucophosphate isomerase deficiency

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

Hemolytic anemia due to red cell pyruvate kinase deficiency

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Hepatoerythropoietic porphyria

Hereditary butyrylcholinesterase deficiency

Hereditary combined deficiency of vitamin K-dependent clotting factors

Hereditary coproporphyria

Hereditary folate malabsorption

Hereditary fructose intolerance

Hereditary hypercarotenemia and vitamin A deficiency

Hereditary hyperekplexia

Hereditary myopathy with lactic acidosis due to ISCU deficiency

Hereditary orotic aciduria

Hereditary sensory and autonomic neuropathy type 1

Hermansky-Pudlak syndrome due to AP-3 deficiency

Hermansky-Pudlak syndrome due to BLOC-1 deficiency

Hermansky-Pudlak syndrome due to BLOC-2 deficiency

Hermansky-Pudlak syndrome due to BLOC-3 deficiency

Histiocytoid cardiomyopathy

Holocarboxylase synthetase deficiency

Homocystinuria due to cystathionine beta-synthase deficiency

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

Homozygous familial hypercholesterolemia

Hurler syndrome

Hurler-Scheie syndrome

Hyaluronidase deficiency

Hydroxykynureninuria

Hyperammonemia due to N-acetylglutamate synthase deficiency

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

Hyperimmunoglobulinemia D with periodic fever

Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

Hyperinsulinism-hyperammonemia syndrome

Hyperlipidemia due to hepatic triacylglycerol lipase deficiency

Hypermethioninemia due to glycine N-methyltransferase deficiency

Hypermethioninemia encephalopathy due to adenosine kinase deficiency

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Hyperphenylalaninemia due to DNAJC12 deficiency

Hyperphosphatasia-intellectual disability syndrome

Hyperprolinemia type 1

Hyperprolinemia type 2

Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation

Hypertryptophanemia

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

Hyperzincemia and hypercalprotectinemia

Hypotonia with lactic acidemia and hyperammonemia

Hypotonia-cystinuria syndrome

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

ISPD-related limb-girdle muscular dystrophy R20

ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

Imerslund-Gräsbeck syndrome

Iminoglycinuria

Infantile Krabbe disease

Infantile Refsum disease

Infantile cerebellar-retinal degeneration

Infantile glycine encephalopathy

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

Infantile nephropathic cystinosis

Infantile neuroaxonal dystrophy

Infantile neuronal ceroid lipofuscinosis

Infantile neurovisceral acid sphingomyelinase deficiency

Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome

Infantile-onset spinocerebellar ataxia

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

Intermediate maple syrup urine disease

Intermediate severe Salla disease

Intermittent maple syrup urine disease

Isobutyryl-CoA dehydrogenase deficiency

Isolated ATP synthase deficiency

Isolated autosomal dominant hypomagnesemia, Glaudemans type

Isolated complex I deficiency

Isolated complex III deficiency

Isolated cytochrome C oxidase deficiency

Isolated sedoheptulokinase deficiency

Isolated succinate-CoQ reductase deficiency

Isolated sulfite oxidase deficiency

Isovaleric acidemia

Juvenile cataract-microcornea-renal glucosuria syndrome

Juvenile nephropathic cystinosis

Juvenile neuronal ceroid lipofuscinosis

Juvenile sialidosis type 2

Kearns-Sayre syndrome

Ketoacidosis due to monocarboxylate transporter-1 deficiency

L-2-hydroxyglutaric aciduria

L-Arginine:glycine amidinotransferase deficiency

Larsen-like syndrome, B3GAT3 type

Late infantile neuronal ceroid lipofuscinosis

Late-infantile/juvenile Krabbe disease

Late-onset citrullinemia type I

Lathosterolosis

Leber hereditary optic neuropathy

Leber plus disease

Lesch-Nyhan syndrome

Lethal ataxia with deafness and optic atrophy

Lethal infantile mitochondrial myopathy

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

Leukocyte adhesion deficiency type II

Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

Leukoencephalopathy-dystonia-motor neuropathy syndrome

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

Limb-girdle muscular dystrophy due to POMK deficiency

Lipoic acid synthetase deficiency

Lipoprotein glomerulopathy

Lipoyl transferase 1 deficiency

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Lysinuric protein intolerance

MEDNIK syndrome

MEGDEL syndrome

MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect

MYO5B-related progressive familial intrahepatic cholestasis

Malonic aciduria

Maternal phenylketonuria

Maternal riboflavin deficiency

Maternally-inherited diabetes and deafness

Medium chain acyl-CoA dehydrogenase deficiency

Megaconial congenital muscular dystrophy

Metachromatic leukodystrophy, adult form

Metachromatic leukodystrophy, juvenile form

Metachromatic leukodystrophy, late infantile form

Methionine adenosyltransferase I/III deficiency

Methylcobalamin deficiency type cblDv1

Methylcobalamin deficiency type cblE

Methylcobalamin deficiency type cblG

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

Methylmalonic acidemia with homocystinuria type cblF

Methylmalonic acidemia with homocystinuria, type cblC

Methylmalonic acidemia with homocystinuria, type cblD

Methylmalonic acidemia with homocystinuria, type cblJ

Methylmalonic acidemia with homocystinuria, type cblX

Methylmalonic aciduria due to transcobalamin receptor defect

Mevalonic aciduria

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Microcytic anemia with liver iron overload

Mild Canavan disease

Mild hyperphenylalaninemia

Mild phenylketonuria

Mild phosphoribosylpyrophosphate synthetase superactivity

Minimal pigment oculocutaneous albinism type 1

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy

Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

Mitochondrial DNA depletion syndrome, hepatocerebrorenal form

Mitochondrial DNA depletion syndrome, myopathic form

Mitochondrial DNA-associated Leigh syndrome

Mitochondrial DNA-related cardiomyopathy and hearing loss

Mitochondrial DNA-related progressive external ophthalmoplegia

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Mitochondrial myopathy and sideroblastic anemia

Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

Mitochondrial neurogastrointestinal encephalomyopathy

Mitochondrial pyruvate carrier deficiency

Mitochondrial trifunctional protein deficiency

Mohr-Tranebjaerg syndrome

Monoamine oxidase A deficiency

Mucolipidosis type II

Mucolipidosis type III alpha/beta

Mucolipidosis type III gamma

Mucolipidosis type IV

Mucopolysaccharidosis type 2, attenuated form

Mucopolysaccharidosis type 2, severe form

Mucopolysaccharidosis type 4A

Mucopolysaccharidosis type 4B

Mucopolysaccharidosis type 6, rapidly progressing

Mucopolysaccharidosis type 6, slowly progressing

Mucopolysaccharidosis type 7

Multiple acyl-CoA dehydrogenase deficiency, mild type

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

Multiple congenital anomalies-hypotonia-seizures syndrome

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

Multiple mitochondrial dysfunctions syndrome type 1

Multiple mitochondrial dysfunctions syndrome type 2

Multiple mitochondrial dysfunctions syndrome type 3

Multiple mitochondrial dysfunctions syndrome type 4

Multiple osteochondromas

Multiple sulfatase deficiency

Muscle-eye-brain disease

Musculocontractural Ehlers-Danlos syndrome

Myopathy and diabetes mellitus

Navajo neurohepatopathy

Neonatal adrenoleukodystrophy

Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

Neonatal glycine encephalopathy

Neonatal intrahepatic cholestasis due to citrin deficiency

Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect

Neu-Laxova syndrome

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

Neurodegenerative syndrome due to cerebral folate transport deficiency

Neuroferritinopathy

Neurological conditions associated with aminoacylase 1 deficiency

Neutral lipid storage disease with ichthyosis

Neutral lipid storage myopathy

Niemann-Pick disease type C, adult neurologic onset

Niemann-Pick disease type C, juvenile neurologic onset

Niemann-Pick disease type C, late infantile neurologic onset

Niemann-Pick disease type C, severe early infantile neurologic onset

Niemann-Pick disease type C, severe perinatal form

Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy

Occipital horn syndrome

Ocular albinism

Ocular anomalies-axonal neuropathy-developmental delay syndrome

Ocular cystinosis

Oculocerebrorenal syndrome of Lowe

Oculocutaneous albinism type 1A

Oculocutaneous albinism type 1B

Oculocutaneous albinism type 2

Oculocutaneous albinism type 3

Oculocutaneous albinism type 4

Oculocutaneous albinism type 6

Oculocutaneous albinism type 7

Ornithine transcarbamylase deficiency

Oxoglutaric aciduria

POGLUT1-related limb-girdle muscular dystrophy R21

POMGNT1-related limb-girdle muscular dystrophy R15

POMT1-related limb-girdle muscular dystrophy R11

POMT2-related limb-girdle muscular dystrophy R14

PYCR1-related De Barsy syndrome

Pancreatic insufficiency-anemia-hyperostosis syndrome

Papillon-Lefèvre syndrome

Paroxysmal nocturnal hemoglobinuria

Periodic paralysis with later-onset distal motor neuropathy

Peroxisomal acyl-CoA oxidase deficiency

Perrault syndrome

Peters plus syndrome

Phosphoenolpyruvate carboxykinase deficiency

Phosphoserine aminotransferase deficiency, infantile/juvenile form

Polyglucosan body myopathy type 1

Polyglucosan body myopathy type 2

Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

Pontocerebellar hypoplasia type 6

Porphyria due to ALA dehydratase deficiency

Porphyria variegata

Primary hyperoxaluria type 1

Primary hyperoxaluria type 2

Primary hyperoxaluria type 3

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement

Primary hypomagnesemia with secondary hypocalcemia

Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome

Progressive encephalopathy with leukodystrophy due to DECR deficiency

Progressive epilepsy-intellectual disability syndrome, Finnish type

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

Progressive familial intrahepatic cholestasis type 1

Progressive familial intrahepatic cholestasis type 2

Progressive familial intrahepatic cholestasis type 3

Progressive familial intrahepatic cholestasis type 4

Progressive familial intrahepatic cholestasis type 5

Progressive myoclonic epilepsy type 3

Progressive myoclonic epilepsy type 8

Progressive polyneuropathy with bilateral striatal necrosis

Progressive retinal dystrophy due to retinol transport defect

Prolidase deficiency

Propionic acidemia

Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

Pterin-4 alpha-carbinolamine dehydratase deficiency

Purine nucleoside phosphorylase deficiency

Pycnodysostosis

Pyridoxal phosphate-responsive seizures

Pyridoxine-dependent epilepsy

Pyruvate carboxylase deficiency, benign type

Pyruvate carboxylase deficiency, infantile type

Pyruvate carboxylase deficiency, severe neonatal type

Pyruvate dehydrogenase E1-alpha deficiency

Pyruvate dehydrogenase E1-beta deficiency

Pyruvate dehydrogenase E2 deficiency

Pyruvate dehydrogenase E3 deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

Pyruvate dehydrogenase phosphatase deficiency

Rare mitochondrial non-syndromic sensorineural deafness

Recessive mitochondrial ataxia syndrome

Renal tubulopathy-encephalopathy-liver failure syndrome

Rhizomelic chondrodysplasia punctata type 1

Rhizomelic chondrodysplasia punctata type 2

Rhizomelic chondrodysplasia punctata type 3

Rhizomelic chondrodysplasia punctata type 5

Ribose-5-P isomerase deficiency

S-adenosylhomocysteine hydrolase deficiency

SLC40A1-related hemochromatosis

SURF1-related Charcot-Marie-Tooth disease type 4

Saccharopinuria

Sandhoff disease, adult form

Sandhoff disease, infantile form

Sandhoff disease, juvenile form

Sanfilippo syndrome type A

Sanfilippo syndrome type B

Sanfilippo syndrome type C

Sanfilippo syndrome type D

Scheie syndrome

Schneckenbecken dysplasia

Seizures-scoliosis-macrocephaly syndrome

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome

Severe Canavan disease

Severe X-linked mitochondrial encephalomyopathy

Severe combined immunodeficiency due to adenosine deaminase deficiency

Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency

Severe phosphoribosylpyrophosphate synthetase superactivity

Severe primary trimethylaminuria

Short chain acyl-CoA dehydrogenase deficiency

Sialidosis type 1

Sjögren-Larsson syndrome

Smith-Lemli-Opitz syndrome

Spastic paraplegia type 7

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

Spinocerebellar ataxia type 28

Spinocerebellar ataxia type 38

Spinocerebellar ataxia with epilepsy

Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type

Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type

Sporadic porphyria cutanea tarda

Succinic semialdehyde dehydrogenase deficiency

Succinyl-CoA:3-oxoacid CoA transferase deficiency

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Symptomatic form of HFE-related hemochromatosis

Syndromic sensorineural deafness due to combined oxidative phosphorylation defect

Systemic primary carnitine deficiency

TFR2-related hemochromatosis

TMEM70-related mitochondrial encephalo-cardio-myopathy

Tangier disease

Tay-Sachs disease, adult form

Tay-Sachs disease, infantile form

Tay-Sachs disease, juvenile form

Temperature-sensitive oculocutaneous albinism type 1

Temtamy preaxial brachydactyly syndrome

Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria

Thiamine-responsive encephalopathy

Thiamine-responsive maple syrup urine disease

Thiamine-responsive megaloblastic anemia syndrome

Transaldolase deficiency

Transcobalamin deficiency

Transketolase deficiency

Trehalase deficiency

Triose phosphate-isomerase deficiency

Tyrosinemia type 1

Tyrosinemia type 2

Tyrosinemia type 3

Urocanic aciduria

Very long chain acyl-CoA dehydrogenase deficiency

Vitamin B12-responsive methylmalonic acidemia type cblA

Vitamin B12-responsive methylmalonic acidemia type cblB

Vitamin B12-responsive methylmalonic acidemia, type cblDv2

Vitamin B12-unresponsive methylmalonic acidemia type mut-

Vitamin B12-unresponsive methylmalonic acidemia type mut0

Walker-Warburg syndrome

Wrinkly skin syndrome

X-linked Charcot-Marie-Tooth disease type 5

X-linked cerebral adrenoleukodystrophy

X-linked creatine transporter deficiency

X-linked dominant chondrodysplasia punctata

X-linked erythropoietic protoporphyria

X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome

X-linked recessive ocular albinism

X-linked sideroblastic anemia

X-linked sideroblastic anemia and spinocerebellar ataxia

Xanthinuria type I

Xanthinuria type II

Zellweger syndrome

Additional information

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