NeurometPlus

List of Conditions

There are currently 662 conditions in the database.

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  • 2 (Back to top)

  • 2,4-Dienoyl-CoA Reductase deficiency, Dienoyl-CoA reductase deficiency, DE RED, DECR.
  • 2-amino/2-oxoadipic aciduria. 2-aminoadipate aminotransferase / 2-oxoadipate dehydrogenase deficiency.
  • 2-D,L- hydroxyglutaric aciduria. D,L-2-hydroxyglutaric aciduria. D,L-2-HGA.
  • 2-Hydroxyglutaric Aciduria. L-2-Hydroxyglutaric aciduria. L-2-Hydroxyglutaric acid dehydrogenase deficiency.
  • 2-Hydroxyglutaric aciduria. D-2-Hydroxyglutaric aciduria type I. D-2-HGA type I.
  • 2-Hydroxyglutaric aciduria. D-2-Hydroxyglutaric aciduria type II. D-2-HGA type II.
  • 2-Ketoadipic aciduria.
  • 2-ketoglutaric aciduria. Alpha-Ketoglutaric aciduria. Alpha-ketoglutaric acid dehydrogenase deficiency.

    • 3 (Back to top)

  • 3-Hydroxy-3-methyl glutaryl-CoA lyase deficiency (HMG CoA lyase deficiency)
  • 3-Hydroxy-isobutyryl-CoA hydrolase deficiency. HIBCH deficiency. Leigh-like disease.
  • 3-Hydroxyisobutyric acidemia. 3-hydroxyisobutyrate dehydrogenase deficiency
  • 3-Methylglutaconic aciduria with deficient hydratase (type 1)
  • 3-Methylglutaconic aciduria with normal hydratase (type 2). Barth syndrome
  • 3-Methylglutaconic aciduria with normal hydratase (type 4 or special variants), 4a Costeff syndrome or Iraqi-Jewish disease, 4b variant with extrapyramidal signs.
  • 3-Methylglutaconic aciduria with normal hydratase. (Non-specific or type 3) 3a: with mainly neuro sx. 3b: with neonatal acidosis and severe hypoglycemia.
  • 3-oxothiolase deficiency.
  • 3-Phosphoglycerate dehydrogenase deficiency
  • 3-Phosphoserine phosphatase deficiency

    • 4 (Back to top)

  • 4-Hydroxybutiric Aciduria . Succinic semialdehyde dehydrogenase deficiency (autistic features)

    • 5 (Back to top)

  • 5-Oxoprolinuria (Pyroglutamic Aciduria). Glutathione synthetase deficiency.

    • A (Back to top)

  • Aarskog syndrome. Facial-digital-genital syndrome
  • Aase syndrome
  • Abetalipoproteinemia (Bassen-Kornzweig disease)
  • Acetyl-CoA carboxylase deficiency
  • Achondroplasia
  • Acro fronto facio nasal dysostosis. Richieri-Costa-Colletto syndrome.
  • Acrocallosal syndrome (ACS). Schinzel syndrome.
  • Acrodermatitis enteropathica.
  • Acute Disseminated Encephalomyelitis (ADEM)
  • Acute Intermittent Porphyria (AIP). Porphobilinogen (PBG) deaminase deficiency.
  • Adams-Oliver syndrome. Absence Defect of Limbs, Scalp and Skull.
  • Adenylosuccinate lyase (ASL) deficiency
  • Adrenoleukodystrophy
  • Adrenomyeloneuropathy
  • Adult polyglucosan disease. Probable deficiency of glycogen branching enzyme 1-4-glucan-6-glucosyl transferase.
  • Agenesis of the Corpus Callosum
  • Aicardi syndrome. Chorioretinal anomalies-corpus callosum agenesis-infantile spasms syndrome.
  • Aicardi-Goutieres syndrome (Encephalopathy-basal ganglia-calcification)
  • Alcaptonuria. Homogentisic acid oxydase deficiency.
  • Alexander disease
  • Alpers syndrome (progressive infantile poliodystrophy)
  • Alpha-mannosidosis type I. Infantile variety. Alpha-d-mannosidase deficiency.
  • Alpha-mannosidosis type II. Juvenile form. Alpha-d-mannosidase deficiency.
  • Alpha-methylacyl-CoA racemase deficiency /AMACR deficiency
  • Alport syndrome. Hematuria-nephropathy-deafness syndrome
  • Alstrom syndrome
  • Andermann syndrome. Agenesis of corpus callosum with polyneuropathy.
  • Andersen-Tawil syndrome. ATS. Long QT syndrome 7. LQT7. Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features.
  • Angelman syndrome
  • Antiphospholipid syndrome, Hughes syndrome, Familial antiphospholipid syndrome; Antiphospholipid antibody syndrome; Lupus anticoagulant
  • Apert syndrome. Craniosynostosis with syndactyly .
  • Aplasia Cutis Congenita.
  • Arnold-Chiari type I malformation
  • Arnold-Chiari type II malformation
  • Aromatic L-aminoacid decarboxylase (AADC) deficiency.
  • Arthrogryposis multiplex congenita-spinal muscular atrophy (AMC-SMA association)
  • Aspartylglucosaminuria. Aspartylglucosaminidase deficiency
  • Asperger syndrome
  • Ataxia Telangiectasia
  • Autistic Disorder. Autism.
  • Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)

    • B (Back to top)

  • Bannayan-Riley-Ruvalcaba syndrome. Macrocephaly, multiple lipomas, hemangiomata.
  • Bardet-Biedl Syndrome
  • Becker Muscular Dystrophy (BMD)
  • Beckwith-Wiedemann Syndrome
  • Behcet Disease
  • Behr syndrome
  • Benign childhood occipital epilepsy, Gastaut type. Late onset benign childhood occipital epilepsy. Benign epilepsy of childhood with occipital paroxysms (BECOP).
  • Benign Familial Neonatal Convulsions (BFNC). Benign Sporadic Neonatal Convulsions
  • Benign Myoclonic Epilepsy in Infancy (BMEI)
  • Benign nonprogressive familial chorea
  • Benign Rolandic Epilepsy (BRE). Benign Childhood Epilepsy with Rolandic (Centrotemporal) Spikes (BECRS). Sylvian Seizures.
  • Bertini syndrome. Ataxia-myoclonic encephalopathy-macular degeneration-recurrent infections syndrome.
  • Beta-ketothiolase deficiency. (2-Methyl acetoacetyl-CoA 3-ketothiolase deficiency) (mitochondrial 3-ketothiolase or beta-ketothiolase deficiency). 3-oxothiolase deficiency.
  • Beta-mannosidosis. Beta-mannosidase deficiency.
  • Beta-mercaptolactate-cysteine disulfiduria. MCDU. Disulfiduria mixed.
  • Bethlem myopathy. Leonard syndrome. Benign congenital myopathy with contractures.
  • Biotinidase deficiency (Multiple carboxylase deficiency)
  • Bohring-Opitz syndrome (BOS).
  • Brain-lung-thyroid syndrome. Benign hereditary chorea.

    • C (Back to top)

  • CADASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
  • Canavan's disease. Infantile spongy degeneration. Aspartoacylase deficiency.
  • Carbohydrate deficient glycoprotein syndrome (CDGS) type I. Phosphomannomutase (PMM) deficiency (in 80% of pts).
  • Carbohydrate deficient glycoprotein syndrome (CDGS) type II. Phosphomannose isomerase (PMI) deficiency.
  • Carnitine palmitoyl transferase (CPT) deficiency. CPT I (infantile hepatic form)
  • Carnitine palmitoyl transferase (CPT) deficiency. CPT II (adult & infantile myopathic form),
  • Carnitine palmitoyl transferase (CPT) deficiency. CPT II (fatal newborn multisystem form)
  • Carnitine primary deficiency. Muscle form.
  • Carnitine primary deficiency. Systemic form. (Carnitine transport defect)
  • Carnitine-Acylcarnitine Translocase Deficiency. CACT deficiency.
  • Carnosinemia. Carnosinase deficiency
  • CDKL5 Deficiency Disorder. CDD
  • Central core disease
  • Cerebral folate deficiency syndrome
  • Cerebral palsy
  • Cerebro-oculo-facio-skeletal syndrome. COFS syndrome. Pena-Shokeir II syndrome.
  • Cerebrofaciothoracic dysplasia. Pascual Castroviejo syndrome.
  • Cerebrotendinous xanthomatosis. Sterol 27-hydroxylase deficiency.
  • Charcot-Marie-Tooth (CMT) disease type 1
  • Charcot-Marie-Tooth (CMT) disease type 2
  • Charcot-Marie-Tooth Neuropathy X Type 5 . CMTX5. Rosenberg-Chutorian Syndrome
  • CHARGE association, Hall-Hittner syndrome.
  • Chediak-Higashi syndrome
  • Childhood absence epilepsy (CAE). Petit Mal seizures. Typical absence seizures.
  • Chorea-Acanthocytosis. Neuroacanthocytosis. Levine-Critchley syndrome.
  • Choroido-cerebral calcification syndrome with retardation.
  • Chromosome 10 ring syndrome. Ring chromosome 10 syndrome.
  • Chromosome 10p deletion syndrome. 10p minus syndrome. Monosomy 10p.
  • Chromosome 10p duplication syndrome. 10p+ syndrome. Trisomy 10p.
  • Chromosome 10p duplication/10q deletion syndrome. 10p+/10q minus syndrome. Trisomy 10p/monosomy 10q.
  • Chromosome 10q deletion syndrome. 10q minus syndrome. Monosomy 10q.
  • Chromosome 10q duplication syndrome. 10q+ syndrome. Trisomy 10q
  • Chromosome 11p deletion syndrome. 11p minus syndrome. Monosomy 11p. Oculocerebrorenal (OCR) síndrome. Brusa-Toricelli syndrome. Miller syndrome. Wilms tumor-aniridia syndrome.
  • Chromosome 11q duplication syndrome. 11q+ syndrome. Trisomy 11q.
  • Chromosome 12 ring syndrome. Ring chromosome 12.
  • Chromosome 12p deletion syndrome. 12p minus syndrome. Monosomy 12p.
  • Chromosome 12p duplication syndrome. 12p+ syndrome. Trisomy 12p.
  • Chromosome 12p tetrasomy syndrome. Pallister-Killian syndrome. Tetrasomy 12p.
  • Chromosome 12q duplication syndrome. 12q+ syndrome. Trisomy 12q.
  • Chromosome 13 ring syndrome. Ring chromosome 13 syndrome.
  • Chromosome 13 trisomy syndrome. Bartholin-Patau syndrome. Patau syndrome. Trisomy 13-15.
  • Chromosome 13p duplication syndrome. Trisomy 13p.
  • Chromosome 13q deletion syndrome. Orbeli syndrome. 13q minus syndrome. Monosomy 13q.
  • Chromosome 13q duplication syndrome. 13q+ syndrome. Trisomy 13q.
  • Chromosome 14 trisomy syndrome. Trisomy 14.
  • Chromosome 14 uniparental disomy syndrome. Uniparental disomy (UPD) of chromosome 14.
  • Chromosome 14q deletion partial/14p duplication partial
  • Chromosome 14q deletion syndrome. 14q minus syndrome. Monosomy 14q.
  • Chromosome 14q duplication syndrome. 14q+ syndrome. Trisomy 14q.
  • Chromosome 15 inverted duplication. Inv dup (15) chromosome syndrome
  • Chromosome 15 ring syndrome. Ring chromosome 15 syndrome
  • Chromosome 15 trisomy. Trisomy 15 syndrome
  • Chromosome 15q deletion syndrome. 15q minus syndrome. Monosomy 15q.
  • Chromosome 15q duplication syndrome. 15q+ syndrome. Trisomy 15q.
  • Chromosome 15q tetrasomy syndrome. Tetrasomy 15q.
  • Chromosome 15q triplication syndrome
  • Chromosome 16p duplication syndrome. 16p+ syndrome. Trisomy 16p.
  • Chromosome 16q deletion syndrome. Fryns syndrome. 16q minus syndrome. Monosomy 16q.
  • Chromosome 17 ring syndrome. Ring chromosome 17 syndrome
  • Chromosome 17p deletion syndrome. Smith-Magenis syndrome (SMS). 17p minus syndrome. Monosomy 17p.
  • Chromosome 17p duplication syndrome. 17p+ syndrome. Trisomy 17p.
  • Chromosome 17q deletion syndrome. 17q minus syndrome. Monosomy 17q.
  • Chromosome 17q duplication syndrome. 17q+ syndrome. Trisomy 17q.
  • Chromosome 18 ring syndrome. 18 ring syndrome.
  • Chromosome 18 trisomy. Trisomy 18 Syndrome. Edward\'s Syndrome.
  • Chromosome 18p deletion syndrome / De Grouchy syndrome 1/ 18p minus syndrome/ Monosomy 18p.
  • Chromosome 18p tetrasomy syndrome. 18p tetrasomy
  • Chromosome 18q deletion syndrome. de Grouchy syndrome 2. 18q minus syndrome. Monosomy 18q
  • Chromosome 18q duplication syndrome. 18q+ syndrome. Trisomy 18q.
  • Chromosome 19 ring syndrome. Ring chromosome 19 syndrome.
  • Chromosome 19p duplication syndrome. 19p+ syndrome. Trisomy 19p
  • Chromosome 19q duplication syndrome. 19q+ syndrome. Trisomy 19q.
  • Chromosome 1p deletion syndrome. Chromosome 1p minus syndrome.
  • Chromosome 1p duplication syndrome. 1p+ syndrome. Trisomy 1p syndrome
  • Chromosome 1q deletion syndrome. 1q minus syndrome.
  • Chromosome 1q duplication syndrome. Chromosome 1q plus syndrome. Trisomy 1q.
  • Chromosome 2 trisomy syndrome. Trisomy 2 mosaicism syndrome.
  • Chromosome 20 ring syndrome. Ring chromosome 20. R20.
  • Chromosome 20p deletion syndrome. 20p minus syndrome. Monosomy 20q.
  • Chromosome 20q duplication syndrome.20q+ syndrome. Trisomy 20q.
  • Chromosome 21 monosomy syndrome. 21 deletion syndrome. Monosomy 21.
  • Chromosome 21q deletion syndrome. 21q minus syndrome. Monosomy 21q.
  • Chromosome 21q tetrasomy syndrome. Tetrasomy 21q.
  • Chromosome 22 monosomy syndrome. Monosomy 22.
  • Chromosome 22 Ring.
  • Chromosome 22 supernumerary marker. Supernumerary marker chromosome (SMC) 22.
  • Chromosome 22 trisomy syndrome. Trisomy 22. Duplication 22.
  • Chromosome 22q deletion syndrome. 22q minus syndrome. Monosomy 22q.
  • Chromosome 22q duplication syndrome. 22q+ syndrome. Trisomy 22q.
  • Chromosome 2p deletion syndrome. Chromosome 2p minus syndrome.
  • Chromosome 2p duplication syndrome. Chromosome 2p plus syndrome. Trisomy 2p syndrome.
  • Chromosome 2q deletion syndrome. 2q minus syndrome.
  • Chromosome 2q duplication syndrome. 2q+ syndrome. Trisomy 2q syndrome.
  • Chromosome 3p deletion syndrome. 3p minus syndrome.
  • Chromosome 3p duplication syndrome. 3p+ syndrome. Trisomy 3p syndrome.
  • Chromosome 3q deletion syndrome. 3q minus syndrome
  • Chromosome 3q duplication syndrome. 3q+ syndrome. Trisomy 3q syndrome.
  • Chromosome 4 ring syndrome
  • Chromosome 4p deletion syndrome. 4p minus syndrome. Wolf syndrome. Wolf-Hirschhorn syndrome (WHS)
  • Chromosome 4p Duplication Syndrome. Trisomy 4p syndrome.
  • Chromosome 4q deletion syndrome. 4q minus syndrome. Monosomy 4q syndrome.
  • Chromosome 4q duplication syndrome. 4q+ syndrome. Trisomy 4q syndrome.
  • Chromosome 5p duplication syndrome. 5p+ syndrome. Trisomy 5p syndrome.
  • Chromosome 5p tetrasomy syndrome. 5p tetrasomy syndrome.
  • Chromosome 5q deletion syndrome. 5q minus syndrome. Monosomy 5q syndrome.
  • Chromosome 5q duplication syndrome. 5q+ syndrome. Trisomy 5q syndrome.
  • Chromosome 6 ring syndrome. Ring chromosome 6 syndrome.
  • Chromosome 6p deletion syndrome. 6p minus syndrome. Monosomy 6p.
  • Chromosome 6p duplication syndrome. Trisomy 6p.
  • Chromosome 6q deletion syndrome. 6q minus syndrome. Monosomy 6q.
  • Chromosome 6q duplication syndrome. 6q+ syndrome. Trisomy 6q.
  • Chromosome 7 ring syndrome. Ring chromosome 7 syndrome
  • Chromosome 7p deletion syndrome. 7p minus syndrome. Monosomy 7p.
  • Chromosome 7p duplication syndrome. 7p+ syndrome. Trisomy 7p.
  • Chromosome 7q deletion syndrome. 7q minus syndrome. Monosomy 7q.
  • Chromosome 7q duplication syndrome. 7q+ syndrome. Trisomy 7q.
  • Chromosome 8 recombinant syndrome. Recombinant 8 syndrome.
  • Chromosome 8 ring
  • Chromosome 8 trisomy syndrome. Warkany syndrome 2. Trisomy C syndrome.
  • Chromosome 8 trisomy. Trisomy 8.
  • Chromosome 8p deletion syndrome. 8p minus syndrome. Monosomy 8p.
  • Chromosome 8p duplication syndrome. 8p+ syndrome. Trisomy 8p.
  • Chromosome 8p inverted duplication syndrome. Trisomy 8p due to inverted duplication.
  • Chromosome 8p mosaic tetrasomy. Mosaic tetrasomy 8p syndrome.
  • Chromosome 8q deletion syndrome. 8q minus syndrome. Monosomy 8q.
  • Chromosome 8q duplication syndrome. 8q+ syndrome. Trisomy 8q.
  • Chromosome 9 inversion syndrome. Chromosome 9q duplication/chromosome 9p deletion syndrome. 9q+/9p minus syndrome.
  • Chromosome 9 Ring
  • Chromosome 9 trisomy syndrome. Trisomy 9.
  • Chromosome 9p deletion syndrome. 9p minus syndrome. Monosomy 9p.
  • Chromosome 9p duplication syndrome. Rethoré syndrome. 9p+ syndrome. Trisomy 9p.
  • Chromosome 9p tetrasomy syndrome. Tetrasomy 9p.
  • Chromosome 9q deletion syndrome. 9q minus syndrome. Monosomy 9q.
  • Chromosome 9q duplication syndrome. 9q+ syndrome. Trisomy 9q.
  • Chromosome diploid/tetraploid mixoploidy syndrome. 46,XXYY/92,XXXXYYYY mixoploidy.
  • Chromosome diploid/triploid mixoploidy syndrome. 46,XX/69,XXX mixoploidy.
  • Chromosome tetraploidy syndrome. 92.XXYY syndrome
  • Chromosome triploidy syndrome. 69,XXX syndrome. 69,XXY syndrome.
  • Chromosome XXX syndrome. Chromosome 47XXX syndrome. Trisomy X. Super female.
  • Chromosome XXXXX syndrome. 49,XXXXX syndrome. Pentasomy X syndrome.
  • Chromosome XYY syndrome. 47,XYY syndrome. Jacob syndrome.
  • Cleidocranial dysostosis. Cleidocranial dysplasia (CCD). Dysplasia cleidofacialis.
  • Cobalamin C mutation
  • Cobalamin D mutation
  • Cobalamin F mutation
  • Cockayne syndrome
  • Coffin-Lowry syndrome
  • Complex glycerol kinase deficiency. Glycerol kinase deficiency with adrenal hypoplasia without and with Duchenne muscular dystrophy (DMD)
  • Congenital axonal neuropathy. Severe prenatal onset Spinal Muscular atrophy (SMA).
  • Congenital hypothyroidism
  • Congenital muscular dystrophy due to Integrin alpha7 deficiency.
  • Congenital muscular dystrophy type 1B.
  • Congenital muscular dystrophy type 1D
  • Congenital myotonic dystrophy
  • Cornelia de Lange syndrome (CdLS). De Lange syndrome.
  • Costello syndrome. Mental retardation nasal papillomata. Faciocutaneoskeletal (FCS) syndrome.
  • Creatine Deficiency syndrome (CDS). Arginine:Glycine Amidinotransferase Deficiency. AGAT deficiency.
  • Creatine deficiency syndrome (CDS). Guanidinoacetate methyltransferase (GAMT) deficiency.
  • Creatine Deficiency Syndrome (CDS). X-linked creatine transporter deficiency. SLC6A8 Deficiency.
  • Cri du chat syndrome/ Lejeune syndrome/ 5p minus syndrome/ Cat cry syndrome/ Chromosome 5p deletion syndrome.
  • Crouzon syndrome. Craniosynostosis alone with normal hand findings.
  • Cystathioninuria. Gamma-cystathionase deficiency.
  • Cystinuria. Cystinuria-lysinuria
  • Cytosolic acetoacetyl-CoA thiolase deficiency

    • D (Back to top)

  • D-glyceric aciduria. D-glycerate kinase deficiency
  • DDX3X syndrome
  • De Barsy syndrome. Progeroid syndrome of De Barsy. Cutis laxa, corneal clouding and mental retardation.
  • Dejerine-Sottas Syndrome (DSS)
  • Dermatoleukodystrophy
  • Developer test condition
  • Diabetic Embryopathy
  • Dibasicaminoaciduria I.
  • Dicarboxylic aminoaciduria. Glutamate-aspartate transport defect.
  • DiGeorge syndrome (DGS). Thymic and parathyroid agenesis syndrome.
  • Dihydropyrimidine dehydrogenase deficiency
  • Dopa-responsive dystonia (DRD) due to guanine triphosphate cyclohydrolase (GTPCH) deficiency.
  • Dopa-responsive dystonia (DRD) due to tyrosine hydroxylase deficiency.
  • Down syndrome
  • Dravet Syndrome (DS). Severe Myoclonic Epilepsy in Infancy. SMEI
  • Duchenne Muscular Dystrophy (DMD).
  • DYRK1A-Related Intellectual Disability Syndrome. 21q22.13q22.2 microdeletion syndrome.

    • E (Back to top)

  • Early Myoclonic encephalopathy (EME)
  • Ehlers-Danlos syndrome, arthrochalasic type. (Ehlers-Danlos syndrome type 7A, 7B)
  • Ehlers-Danlos syndrome, classic type (Ehlers-Danlos syndrome type 1, Ehlers-Danlos syndrome type 2)
  • Ehlers-Danlos syndrome, dermatosparaxis type. (Ehlers-Danlos syndrome type 7C)
  • Ehlers-Danlos syndrome, hypermobile type. (Ehlers-Danlos syndrome type 3)
  • Ehlers-Danlos syndrome, kyphoscoliotic type. Ehlers-Danlos syndrome type 6
  • Ehlers-Danlos syndrome, vascular type. Ehlers-Danlos syndrome type 4
  • Electrical status epilepticus during slow-wave sleep (ESESS). Continuous spike-wave during slow sleep syndrome (CSWSS syndrome)
  • Emery-Dreifuss muscular dystrophy (EDMD)
  • Epilepsy with myoclonic absences
  • Ethanolaminosis. Ethanolamine kinase deficiency.
  • Ethylmalonic encephalopathy
  • Eyelid Myoclonia with and without Absences. EMA. Jeavons Syndrome.

    • F (Back to top)

  • Fabry disease. Alpha-galactosidase A deficiency.
  • Facioscapulohumeral muscular dystrophy (Landouzy-Dejerine Disease; FSHD)
  • Fahr disease or familial idiopathic basal ganglia calcification (IBGC)
  • Familial progressive myoclonic epilepsy with Lafora bodies. Lafora disease.
  • Farber disease o Lipogranulomatosis type 1 (usual type) . Ceramide deficiency. Acid ceramidase deficiency.
  • Farber disease o Lipogranulomatosis type 2 and 3 . Ceramide deficiency. Acid ceramidase deficiency.
  • Farber disease o Lipogranulomatosis type 4 (neonatal onset and fulminant course). Ceramide deficiency. Acid ceramidase deficiency.
  • Farber disease o Lipogranulomatosis type 5 (late infantil neurological form). Ceramide deficiency. Acid ceramidase deficiency.
  • Febrile Seizures
  • Feingold syndrome type 1. Oculodigitoesophagoduodenal Syndrome. Brunner-Winter syndrome
  • Feingold syndrome type 2. FS2. Brunner-Winter syndrome type 2.
  • Fetal Alcohol Syndrome (FAS)
  • Fetal Hydantoin syndrome
  • Fibrodysplasia ossificans progressiva (FOP). Myositis ossificans progressiva.
  • Fishman syndrome. Encephalocraniocutaneous lipomatosis (ECCL)
  • Folinic Acid-Responsive Neonatal Seizures
  • Fragile X Syndrome
  • Fraser syndrome
  • Friedreich Ataxia
  • Fructose-1,6-diphosphatase deficiency
  • Fucosidosis type I. Alpha L fucosidase deficiency.
  • Fucosidosis type II. Alpha L fucosidase deficiency.
  • Fucosidosis type III. Alpha L fucosidase deficiency.
  • Fukuyama congenital muscular dystrophy.
  • Fumaric aciduria (deficient fumarase).

    • G (Back to top)

  • GABA Transaminase (GT) deficiency
  • Galactosemia. Galactose-1-phosphate uridyl-transferase deficiency
  • Galactosialidosis. Congenital form. Combined alpha-neuraminidase and beta-galactosidase deficiency.
  • Galactosialidosis. Early infantile form. Combined alpha-neuraminidase and beta-galactosidase deficiency.
  • Galactosialidosis. Juvenil type. Combined alpha-neuraminidase and beta-galactosidase deficiency.
  • Galactosialidosis. Late infantile type. Combined alpha-neuraminidase and beta-galactosidase deficiency.
  • Gamma-glutamylcysteine synthetase deficiency
  • Gaucher's Disease Type I. Non neuronopathic type. Glucocerebrosidase (acid betaglucosidase) deficiency.
  • Gaucher's Disease Type II. Infantile cerebral type. Acute neuronopathic type. Glucocerebrosidase (acid betaglucosidase) deficiency.
  • Gaucher's Disease Type III . Chronic neuronopathic type. Juvenile and adult cerebral type. Acid betaglucosidase deficiency
  • Gaucher-like disease. Pseudo Gaucher's Disease. Glucosylceramide betaglucosidase deficiency.
  • Gelastic seizures
  • Generalized epilepsy with febrile seizure plus (GEFS+)
  • Glucose transporter protein deficiency (De Vivo disease). Glucose transporter type I deficiency syndrome (GLUT1 DS)
  • Glutamate formiminotransferase deficiency
  • Glutaric aciduria type 1
  • Glutathionuria. Gamma-glutamyl transpeptidase deficiency.
  • Glycogenosis type I. Von Gierke disease. Glucose-6-phosphatase deficiency.
  • Glycogenosis type II a. Infantile form. Pompe disease. Acid maltase deficiency (alpha-glucosidase deficiency).
  • Glycogenosis type II a. Childhood form. Acid maltase deficiency (alpha-glucosidase deficiency)
  • Glycogenosis type II b. Adult form. Acid maltase deficiency (alpha-glucosidase deficiency)
  • Glycogenosis type III. Forbes disease. Adult type. Debrancher deficiency. (Amilo-1,6-glucosidase and/or oligo-1,4 --- 1,4-glucantransferase deficiency).
  • Glycogenosis type III. Forbes disease. Childhood type. Debrancher deficiency. (Amilo-1,6-glucosidase and/or oligo-1,4 --- 1,4-glucantransferase deficiency).
  • Glycogenosis type III. Forbes disease. Infantile type. Debrancher deficiency. (Amilo-1,6-glucosidase and/or oligo-1,4 --- 1,4-glucantransferase deficiency).
  • Glycogenosis type IV. Brancher enzyme deficiency. (Amilo-1,4---1,6-transglucosydase deficiency).
  • Glycogenosis type V. McArdle disease. Myophosphorylase deficiency.
  • Glycogenosis type VI. Hers disease. Liver phosphorylase.
  • Glycogenosis type VII. Tauri disease. Phosphofructokinase deficiency.
  • Glycogenosis type VIII. Phosphorylase B kinase (PBK) deficiency.
  • Glycogenosis type X. Phosphoglycerate mutase (PGAM) deficiency.
  • GM1 Gangliosidosis Type I. Early infantile type. Lysosomal enzyme acid beta-galactosidase deficiency.
  • GM1 Gangliosidosis type II. Late infantile (juvenile) type. Lysosomal acid beta-galactosidase deficiency.
  • GM1 Gangliosidosis type III. Late onset chronic form. Adult form. Lysosomal beta-galactosidase deficiency.
  • GM2 Activator deficiency.
  • GM2 Gangliosidosis. Adult onset mild type. Hexosaminidase A deficiency.
  • GM2 Gangliosidosis. Childhood and juvenile form of Sandhoff disease. Hexosaminidase A and B deficiency.
  • GM2 Gangliosidosis. Childhood subacute form. Hexosaminidase A deficiency.
  • GM2 Gangliosidosis. Chronic type. Juvenile and adult type. Hexosaminidase A deficiency.
  • GM2 Gangliosidosis. Early infantile form. Sandhoff disease. Hexosaminidase A and B deficiency.
  • GM2 Gangliosidosis. Early infantile form. Tay-Sachs Disease. Hexosaminidase A deficiency.
  • GM3 Gangliosidosis. GM3-UPD-N-acetylgalactosaminyltransferasa deficiency.
  • Goldenhar syndrome. Oculoauriculovertebral dysplasia. Hemifacial microsomia.
  • GRIN2B-Related Disorder. In Edition process.

    • H (Back to top)

  • Hallermann-Streiff syndrome (HSS). Oculomandibulofacial syndrome. Birdlike facies.
  • Hallervorden-Spatz Disease
  • Hartnup disease
  • Hawkinsinuria. 4-OH-phenylpyruvic oxidase deficiency.
  • Hereditary (congenital) folate malabsorption
  • Hereditary coproporphyria (HCP). Coproporphyrinogen oxidase (COPRO) deficiency
  • Hereditary fructose intolerance. Fructose-1,6-phosphate aldolase deficiency
  • Hereditary neuralgic amyotrophy (HNA)
  • Hereditary neuropathy with liability to pressure palsies (HNPP)
  • HHH syndrome (Hyperammonemia, Hyperornithinemia, Homocitrullinuria) (Hyperammonemia disorder)
  • Histidinemia. Histidase or histidine ammonia-lyase deficiency.
  • Histidinuria due to renal tubular defect
  • Holocarboxylase synthetase deficiency (Multiple carboxylase deficiency)
  • Holoprosencephaly.
  • Homocarnosinosis. Homocarnosinase deficiency.
  • Homocystinuria (cystathionine B-synthase deficiency)
  • Huntington Disease
  • Huntington Disease Juvenile form
  • Hydroxykynureninuria. Xanthurenic aciduria. Kynureninase deficiency.
  • Hydroxylysinuria
  • Hydroxyprolinemia. 4-alpha-hydroxy-L-proline oxidase deficiency.
  • Hyper-beta-alaninemia. Hyperalaninemia.
  • Hyperinsulinism
  • Hyperinsulinism-hyperammonemia syndrome. Glutamate dehydrogenase deficiency.
  • Hyperkalemic periodic paralysis. HYPP. HyperKPP. HyperPP. Primary hyperkalemic periodic paralysis. Gamstorp disease
  • Hyperleucine-isoleucinemia.
  • Hyperlysinemia I or 2-aminoadipic semialdehyde synthetase. It is called 2-aminoadipic aciduria.
  • Hyperlysinemia II. Saccharopinuria.. Saccharopine dehydrogenase deficiency
  • Hyperlysinuria with hyperammonemia. Periodic Hyperlysinemia.
  • Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency.
  • Hyperornithinemia. Gyrate atrophy of the choroid or Fuchs disease. Ornithine-5-aminotransferase deficiency.
  • Hyperprolinemia Type I. Proline Oxidase Deficiency
  • Hyperprolinemia type II. Pyrroline-5-carboxylate dehydrogenase deficiency.
  • Hypertryptophanemia familial
  • Hypokalemic periodic paralysis. Primary Hypokalemic Periodic (episodic) Paralysis. HOKPP. HypoKPP. HypoPP.
  • Hypomelanosis of Ito (HI). Incontinentia pigmenti achromians.
  • Hypophosphatasia (HPP). Deficiency of alkaline phosphatase. Phosphoethanolaminuria

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  • Iminoglycinuria.
  • Incontinentia pigmenti. Bloch-Shulzberger\'s disease.
  • Isolated glycerol kinase deficiency and glycerol intolerance (juvenile condition)
  • Isovaleric Acidemia. Acute neonatal form.
  • Isovaleric Acidemia. Chronic intermittent form.

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  • Jacobsen syndrome (JBS)/ Chromosome 11q deletion syndrome/ 11q minus syndrome. Monosomy 11q.
  • Joubert syndrome
  • Juvenile myoclonic epilepsy (JME). Janz syndrome

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  • Kabuki syndrome. Niikawa-Kuroki syndrome
  • Klinefelter syndrome
  • Klippel-Feil syndrome (KFS)
  • Klippel-Trenaunay-Weber syndrome
  • Krabbe leukodystrophy. Globoid cell leukodystrophy. Adult form. Galactosylceramidase (galactocerebrosidase beta-galactosidase) deficiency.
  • Krabbe leukodystrophy. Globoid cell leukodystrophy. Early infantile form. Galactosylceramidase (galactocerebrosidase beta-galactosidase) deficiency.
  • Krabbe leukodystrophy. Globoid cell leukodystrophy. Hypotonic variant. Galactosylceramidase (galactocerebrosidase beta-galactosidase) deficiency.
  • Krabbe leukodystrophy. Globoid cell leukodystrophy. Late onset (late infantile and juvenile form). Galactosylceramidase (galactocerebrosidase beta-galactosidase) deficiency.
  • Krabbe leukodystrophy. Globoid cell leukodystrophy. Neonatal variant. Galactosylceramidase (galactocerebrosidase beta-galactosidase) deficiency.

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  • Lactic dehydrogenase (LDH) deficiency
  • Landau-Kleffner Syndrome. Acquired Epileptiform Aphasia.
  • Laurence Moon Syndrome
  • Leber Congenital Amaurosis
  • Leber Hereditary Optic Neuropathy (LHON).
  • Legius syndrome, NF1-like syndrome, Neurofibromatosis 1-like syndrome.
  • Leigh Disease. Subacute Necrotizing Encephalomyopathy.
  • Lennox-Gastaut Syndrome (LGS)
  • LEOPARD syndrome (LS). Multiple Lentigines syndrome. Cardio-cutaneous syndrome. Moynahan syndrome. Lentiginosis profusa. Progressive Cardiomyopathic Lentiginosis.
  • Leprechaunism. Donohue syndrome.
  • Lesch-Nyhan disease. (HPRT deficiency). Hypoxanthine-guanine-phosphoribosyltransferase deficiency.
  • Leukoencephalopathy with vanishing white matter (VWM), also called Childhood ataxia with central hypomyelination (CACH) syndrome. Adult-onset form.
  • Leukoencephalopathy with vanishing white matter (VWM), also called Childhood ataxia with central hypomyelination (CACH) syndrome. Early childhood onset form.
  • Leukoencephalopathy with vanishing white matter (VWM), also called Childhood ataxia with central hypomyelination (CACH) syndrome. Four clinical forms.
  • Leukoencephalopathy with vanishing white matter (VWM), also called Childhood ataxia with central hypomyelination (CACH) syndrome. Infantile form.
  • Leukoencephalopathy with vanishing white matter (VWM), also called Childhood ataxia with central hypomyelination (CACH) syndrome. Late-childhood/juvenile-onset form.
  • Linear Nevus Sebaceous Syndrome. Nevus Sebaceous of Jadassohn. Epidermal Nevus Syndrome.
  • Linear Scleroderma “en coup de sabre”. LScs. Parry-Romberg syndrome (PRS). IN EDITION
  • Lissencephaly
  • Long chain 3-Hydroxyacyl-CoA Dehydrogenase deficiency (LCHAD)
  • Long-chain acyl-CoA dehydrogenase deficiency.(LCAD).
  • Long-chain acyl-CoA dehydrogenase deficiency.(LCAD). Neonatal form.
  • Lowe syndrome. Oculocerebrorenal syndrome
  • Lysine malabsorption syndrome.
  • Lysinuric protein intolerance (Hyperammonemia disorder). Dibasicaminoaciduria II.

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  • Macrocephaly-mental retardation-facial dysmorphism syndrome
  • Macrocephaly/Autism syndrome. Cole-Hughes syndrome.
  • Malonyl-CoA decarboxilase deficiency. Called Malonic Aciduria
  • Maple Syrup Urine Disease (MSUD). Classical type. Branched-chain ketoacid dehydrogenase complex deficiency (3 units).
  • Maple Syrup Urine Disease (MSUD). Intermediate type. Branched-chain ketoacid dehydrogenase complex deficiency (3 units). Enzyme activity 2 to 40% of controls.
  • Maple Syrup Urine Disease (MSUD). Intermittent type. Branched-chain ketoacid dehydrogenase complex deficiency (3 units).
  • Marfan syndrome
  • Marinesco-Sjögren syndrome (MSS). Marinesco-Sjögren-Garland syndrome.
  • MASA syndrome. Gareis-Mason syndrome. X-linked mental retardation-bilateral clasp thumb anomaly
  • Maternal hyperphenylalaninemia. Hyperphenylalaninemic embryopathy.
  • Maternally-inherited Leigh syndrome (MILS)
  • Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
  • Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC). Van der Knaap disease.
  • Megalencephaly familial
  • Menkes disease (Kinky Hair Disease or Trichopoliodystrophy)
  • Merosin deficient congenital muscular dystrophy. Muscular dystrophy congenital type 1A. CMD with laminin-alpha2 deficiency.
  • Metachromatic leukodystrophy. Adolescence and adult type. Arylsulfatase A (ASA) deficiency.
  • Metachromatic leukodystrophy. Late childhood and pre-adolescence forms (late onset).. Arylsulfatase A (ASA) deficiency.
  • Metachromatic Leukodystrophy. Late infantile form. Arylsulfatase A (ASA) deficiency.
  • Methylcrotonic aciduria. (3-Methyl-crotonyl-CoA carboxylase deficiency or 3MCC). 3-methylcrotonylglycinuria
  • Methylene tetrahydrofolate reductase deficiency
  • Methylmalonic acidemia (MMA)
  • Mevalonic aciduria. Mevalonate kinase deficiency
  • Migrating partial epilepsy in infancy. Malignant migrating partial seizures in infancy (MMPSI)
  • Miller-Dieker lissencephaly syndrome (MDLS)
  • Mitochondrial trifunctional enzyme deficiency
  • MNGIE (Mitochondrial NeuroGastroIntestinal Encephalomyopathy) syndrome. Myoneurogastrointestinal encephalopathy syndrome.
  • Mobius syndrome with basal ganglia calcification.
  • Mohr-Tranebjaerg syndrome. Deafness-dystonia-optic atrophy syndrome.
  • Monoamine oxidase-A (MAO-A) deficiency.
  • MPS I. Hurler disease.
  • MPS I. Scheie disease.
  • MPS II. Hunter disease.
  • MPS III A. Sanfilippo A disease.
  • MPS III B. Sanfilippo B disease.
  • MPS III C. Sanfilippo C disease.
  • MPS III D. Sanfilippo D disease.
  • MPS IV A. Morquio A disease.
  • MPS IV B. Morquio B disease.
  • MPS VI. Maroteaux-Lamy disease.
  • MPS VII. Sly disease. Beta-glucuronidase deficiency.
  • Mucolipidosis II . I-cell disease. N-acetylglucosaminyl-1-phosphotransferasa deficiency.
  • Mucolipidosis III. Pseudo-Hurler polydystrophy. N-acetylglucosaminyl-1-phosphotransferasa deficiency.
  • Mucolipidosis IV
  • Multiple acyl-CoA dehydrogenase deficiency (MADD), late-onset form or milder form.(Glutaric aciduria type 2)
  • Multiple acyl-CoA dehydrogenase deficiency (MADD) Neonatal form with dysmorphia (Glutaric aciduria type 2)
  • Multiple Sclerosis (MS)
  • Multiple sulfatase deficiency. Mucosulfatidosis. Austin disease. Depression of the activity of arylsulfatase A and six other sulfatases.
  • Muscle-eye-brain disease. Santavuori syndrome.
  • Myoadenylate deaminase deficiency.
  • Myoclonic Atonic Epilepsy. Doose Syndrome. Myoclonic Astatic epilepsy. MAE.
  • Myotonic dystrophy

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  • Nemaline (rod) myopathy type 3. Typical congenital form.
  • Nemaline (rod) myopathy type 3: Severe congenital form.
  • Nemaline (rod) myopathy type 5. Amish nemaline myopathy.
  • Netherton disease (Bamboo hair syndrome)
  • Neuroaxonal dystrophy. Infantile form. Seitelberger disease.
  • Neuroaxonal dystrophy. Juvenile form.
  • Neurocutaneous melanosis.
  • Neurofibromatosis type 1 (NF1). von Recklinghausen neurofibromatosis.
  • Neurofibromatosis type 2 (NF2)
  • Neuronal ceroid lipofuscinosis adult type. Kufs disease.
  • Neuronal ceroid lipofuscinosis infantile type. Santavuori-Haltia-Hagberg disease
  • Neuronal ceroid lipofuscinosis juvenile type. Spielmeyer-Vogt disease. Late onset Batten disease.
  • Neuronal ceroid lipofuscinosis late infantile form. Jansky-Bielschowsky Disease. Early onset Batten disease. Tripeptidyl peptidase 1 (TPP1) deficiency.
  • Neuropathy, ataxia and retinitis pigmentosa (NARP)
  • Nezelof Syndrome. Combined Immunodeficiency.
  • Niemann-Pick Disease type A (early infantile). Sphingomyelinase deficiency. Acute neuronopathic form.
  • Niemann-Pick Disease type B (sphyngomyelinase deficiency). Chronic form without CNS involvement.
  • Niemann-Pick Disease Type C. Chronic neuronopathic form. Juvenile form.
  • Non-ketotic hyperglycinemia (NKH). Infantile form.
  • Non-ketotic hyperglycinemia (NKH). Juvenile or late onset form.
  • Non-ketotic hyperglycinemia (NKH). Neonatal form.
  • Noonan syndrome.
  • Norrie disease.

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  • Occipital horn syndrome
  • Ohtahara Syndrome. Early infantile epileptic encephalopathy with bursts-suppression pattern.
  • Orotic aciduria type I. Hereditary orotic aciduria (UMP synthase deficiency)
  • Orotic aciduria type II. Orotidine-5-prime-phosphate decarboxylase deficiency.
  • Osteogenesis Imperfecta Type I
  • Osteogenesis Imperfecta Type II
  • Osteogenesis imperfecta type III
  • Osteogenesis Imperfecta type IV
  • Osteogenesis imperfecta-optic atrophy-retinopathy-developmental delay syndrome
  • Osteopetrosis and infantile neuroaxonal dystrophy.
  • Osteopetrosis with renal tubular acidosis. Carbonic anhydrase II deficiency.

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  • Panayiotopoulos Syndrome. Early Onset Benign Childhood Seizures with Occipital Spikes.
  • Paramyotonia congenita. PMC. Eulenburg disease. Paralysis periodica paramyotonia.
  • Paroxysmal kinesigenic choreoathetosis or dystonia.
  • Paroxysmal nonkinesigenic choreoathetosis or dystonia.
  • Patterson pseudoleprechaunism syndrome.
  • Pelizaeus-Merzbacher disease (PMD)
  • Pellagra-like syndrome.
  • Pena Shokeir syndrome type 1. Arthrogryposis multiplex congenita pulmonary hypoplasia. Fetal akinesia sequence.
  • Peroxisomal acyl-CoA-oxidase deficiency. Pseudoneonatal adrenoleukodystrophy . Pseudo-NALD. ACOX1 .
  • Peroxisomal disorders. Infantile Refsum disease (Phytanic acid oxidase deficiency).
  • Peroxisomal disorders. Neonatal Adrenoleukodystrophy (NALD)
  • Peroxisomal disorders. Zellweger syndrome (cerebro-hepato-renal syndrome)
  • Pfeiffer syndrome. Craniosynostosis with broad thumbs.
  • Phelan-McDermid syndrome. Chromosome 22q13 deletion syndrome.
  • Phenylketonuria (PKU) due to Guanine triphosphate cyclohydrolase (GTPCH) deficiency.
  • Phenylketonuria (PKU). Biopterin dependent PKU. 6PTS (6-pyruvoyltetrahydropterin) deficiency
  • Phenylketonuria (PKU). Biopterin dependent PKU. DHPR (dihydropterin reductase) deficiency.
  • Phenylketonuria (PKU). Phenylalanine hydroxylase deficiency.
  • Phosphoenolpyruvate carboxykinase deficiency (PEPCK deficiency)
  • Phosphoglycerate kinase deficiency.
  • Pitt-Hopkins syndrome (PTHS).
  • Poland Syndrome
  • Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy. Nasu-Hakola Disease.
  • Prader-Willi syndrome. Hypotonia-hypomentia-hypogenitalism-obesity (HHHO) syndrome.
  • Progeria. Hutchinson-Gilford Syndrome.
  • Prolidase deficiency. Imidodipeptidase deficiency.
  • Propionic acidemia (PPA). Propionyl-CoA carboxylase deficiency. Also called Ketotic Hyperglycinemia.
  • Proud syndrome. Proud-Levine-Carpenter syndrome. Corpus callosum agenesis-abnormal genitalia syndrome
  • Purine nucleoside phosphorylase deficiency (PNP deficiency)
  • Pyridoxine responsive convulsions. Pyridoxine dependency. Glutamic acid decarboxylase (GAD) deficiency.
  • Pyruvate carboxylase deficiency. Infantile form.
  • Pyruvate carboxylase deficiency. Neonatal form
  • Pyruvate dehydrogenase (PDH) deficiency. E1 subunit deficiency (childhood form) Also called pyruvate decarboxylase deficiency or PDC deficiency
  • Pyruvate dehydrogenase (PDH) deficiency. E1 subunit deficiency (lnfantile form). Also called pyruvate decarboxylase deficiency (PDC defic)
  • Pyruvate dehydrogenase (PDH) deficiency. E1 subunit deficiency (Neonatal form). Also called Pyruvate decarboxylase deficiency (PDC defic)
  • Pyruvate dehydrogenase (PDH) deficiency. E2 subunit deficiency
  • Pyruvate dehydrogenase (PDH) deficiency. E3 subunit deficiency (Dihydrolipoyl dehydrogenase (E3) deficiency)
  • Pyruvate dehydrogenase phosphatase deficiency

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  • Rasmussen’s syndrome. Rasmussen’s Encephalitis. Chronic Focal Encephalitis (CFE)
  • Reflex epilepsies (RE)
  • Refsum disease (hereditary motor and sensory neuropathy type IV (HMSN IV) or Heredopathia Atactica Polyneuritiformis) It is due to phytanic oxidase deficiency.
  • Renal tubular acidosis, distal. Distal primary acidosis, familial.
  • Respiratory chain complexes defects: Complex I deficiency myopathy form with exercise intolerance (childhood and adult forms)
  • Respiratory chain complexes defects: Complex I deficiency, fatal infantile form.
  • Respiratory chain complexes defects: Complex III deficiency. Co Q- cytochrome reductase.
  • Respiratory chain complexes defects: Complex IV (cytochrome c oxidase) (COX) deficiency with Fanconi syndrome
  • Respiratory chain complexes defects: Complex IV (cytochrome c oxidase) (COX) deficiency, presenting as Leigh encephalomyelopathy.
  • Respiratory chain complexes defects: Complex IV (cytochrome c oxidase) (COX) deficiency, with cardiomyopathy.
  • Respiratory chain complexes defects: Complex IV (cytochrome c oxidase) (COX) deficiency, without renal dysfunction
  • Respiratory chain complexes defects: Complex IV (cytochrome c oxydase) deficiency, with benign reversible infantile myopathy.
  • Respiratory chain complexes defects: Complex IV . Kearns-Sayre syndrome
  • Respiratory chain complexes defects: Complex IV . MELAS (cytochrome c oxydase) deficiency: Mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes syndrome (MELAS)..
  • Respiratory chain complexes defects: Complex IV . Myoclonic epilepsy with ragged-red fibers syndrome (MERRF).
  • Rett like syndrome; Rett syndrome variant, Atypical Rett syndrome (Atypical RTT).
  • Rett syndrome
  • Reye's syndrome (Encephalopathy and fatty degeneration of the viscera)
  • Riboflavin transporter deficiency, Pontobulbar palsy and neurosensory deafness, Progressive bulbar palsy with sensorineural deafness, Brown-Vialetto-van Laere syndrome (BVVLS), Fazio-Londe syndrome
  • Rigid spine with muscular dystrophy type 1. Deficiency of selenoprotein N.
  • Romano-Ward Syndrome. Long QT Syndrome.
  • Rothmund-Thomson Syndrome. Poikiloderma Atrophicans and Cataract. Bloch Stauffer Syndrome.
  • Roussy-Levy Syndrome. Hereditary Motor Sensory Neuropathy. Hereditary Areflexic Dystasia.
  • Rubinstein-Taybi syndrome. Broad thumb-hallux syndrome.
  • Russell-Silver Syndrome (RSS). Silver-Russell Syndrome

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  • Saccharopinuria. Saccharopine dehydrogenase deficiency
  • Sarcosinemia. Sarcosine dehydrogenase complex deficiency.
  • Schinzel-Giedion midface retraction syndrome.
  • Schizencephaly
  • Schwartz-Jampel syndrome (SJS) type 1. Chondrodystrophia myotonica
  • Schwartz-Jampel syndrome type 2. Stuve-Wiedemann syndrome.
  • Seckel syndrome. Seckel bird head syndrome.
  • Sepiapterin reductase deficiency. Tetrahydrobiopterin (BH4) deficiency without hyperphenylalaninemia.
  • Septo-optic dysplasia. de Morsier syndrome.
  • Short chain 3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD deficiency)
  • Short-chain acyl-CoA dehydrogenase deficiency (SCAD). Ethyl-malonic aciduria (EMA)
  • Sialidosis I. Cherry-red spot myoclonus syndrome (CRSMS)
  • Sialidosis type II (Mucolipidosis I). Congenital Form. Alpha-neuraminidase deficiency.
  • Sialidosis type II (Mucolipidosis I). Early infantile form. Alpha-neuraminidase deficiency.
  • Sialidosis type II (Mucolipidosis I). Juvenile chronic form. Alpha-neuraminidase deficiency.
  • Sialidosis type II (Mucolipidosis I). Late infantile type, late chronic form. Alpha-neuraminidase deficiency.
  • Sjögren-Larsson syndrome (Fatty acid alcohol oxydoreductase deficiency)
  • SMA I (acute spinal muscular atrophy; Werdnig-Hoffmann disease).
  • SMA II (chronic spinal muscular atrophy; Dubowitz disease).
  • SMA III (juvenile spinal muscular atrophy; Kugelberg-Welander disease).
  • SMA IV. Spinal Muscular Atrophy type IV (adult onset)
  • Smith-Lemli-Opitz syndrome. 7-dehydrocholesterol-delta-7 reductase deficiency
  • Sotos Syndrome
  • Spinocerebellar Ataxia Type 1 (ADCAI, Spinocerebellar atrophy 1; Oliveopontocerebellar atrophy 1; OPCA I; OPCAI;Menzel Type OPCA)
  • Spinocerebellar Ataxia Type 2 (SCA2)
  • Spinocerebellar Ataxia Type 3 [SCA3), Machado-Joseph disease (MJD)]
  • Spinocerebellar Ataxia Type 6 (SCA6)
  • Spinocerebellar Ataxia Type 7 (SCA7), Autosomal Dominant Cerebellar Ataxia Type 2 (ADCA2), Olivopontocerebellar Ataxia Type III (OPCA III), Hereditary Ataxia with Retinal Degeneration (Marie Ataxia]
  • Spondyloepiphyseal dysplasia congenita (SEDC). Spranger-Wiedemann disease.
  • Startle Epilepsy. Startle-induced Seizures.
  • Stickler syndrome. Hereditary progressive arthroophthalmopathy.
  • Sturge-Weber syndrome. Encephalotrigeminal angiomatosis.
  • Subacute Sclerosing Panencephalitis (SSPE). Dowson encephalitis.
  • Succinyl-CoA : 3-ketoacid CoA transferase (SCOT) deficiency. SCOT deficiency.
  • Sulfite oxidase (SO) deficiency, isolated or in association with xanthine oxidase (XO) deficiency. Molybdenum Cofactor Deficiency (MoCD).

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  • TANGO2-related disease. TANGO2-Related Metabolic Encephalopathy and Arrhythmias. Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration.
  • Terminal osseous dysplasia and pigmentary defects. TODPD
  • Thiamine-responsive megaloblastic anemia syndrome (TRMA)
  • Threoninemia. Hyperthreoninemia.
  • Treacher Collins syndrome (TCS). Mandibulofacial dysostosis (MFD).
  • Trimethylaminuria. Fish odor syndrome.
  • Tryptophanuria with dwarfism.
  • Tuberous sclerosis. Tuberous sclerosis complex or TSC
  • Turner Syndrome
  • Tyrosinemia type 1. Acute form. Tyrosine aminotransferase deficiency. Fumarylacetoacetase deficiency.
  • Tyrosinemia type 1. Chronic form. Tyrosine aminotransferase deficiency. Fumarylacetoacetase deficiency.
  • Tyrosinemia type 2. (Richner-Hanhart syndrome). Tyrosine aminotranferase deficiency.
  • Tyrosinemia type 3. 4-hydroxyphenylpyruvate dioxigenase deficiency.

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  • UCD.- Argininemia. Hyperargininemia. Arginase deficiency.
  • UCD.- Argininosuccinic aciduria Childhood form. Argininosuccinase deficiency
  • UCD.- Argininosuccinic aciduria Neonatal form. Argininosuccinase deficiency
  • UCD.- Argininosuccinic aciduria. Three clinical forms. Argininosuccinate lyase deficiency
  • UCD.- Carbamoyl phosphate synthetase (CPS) deficiency Childhood or late form.
  • UCD.- Carbamoyl phosphate synthetase (CPS) deficiency Neonatal form.
  • UCD.- Carbamoyl-Phosphate Synthetase (CPS) deficiency. Two forms.
  • UCD.- Citrullinemia type I Childhood form. Argininosuccinate synthase (ASS) deficiency.
  • UCD.- Citrullinemia type I Neonatal form (classic). Arginosuccinate synthetase deficiency.
  • UCD.- Citrullinemia type II (CTLN2) Adult onset.
  • UCD.- Citrullinemia type II (CTLN2) Neonatal onset.
  • UCD.- Citrullinemia. Several clinical forms. Argininosuccinic acid synthetase deficiency.
  • UCD.- Ornithine Transcarbamylase (OTC) deficiency
  • UCD.- Ornithine transcarbamylase (OTC) deficiency Female presentation.
  • UCD.- Ornithine transcarbamylase (OTC) deficiency Late onset
  • UCD.- Ornithine transcarbamylase (OTC) deficiency Neonatal onset.
  • Ullrich congenital muscular dystrophy.
  • Unverricht-Lundborg progressive familial myoclonic epilepsy. Degenerative type of progressive familial myoclonic epilepsy. Ramsay Hunt syndrome.
  • Urocanase deficiency
  • USP7-Related Disorder. Hao-Fountain syndrome.

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  • Valinemia. Valine transaminase deficiency.
  • Van den Bosch syndrome.
  • Variegate porphyria (VP). Protoporphyrinogen oxidase (PROTO) deficiency.
  • VATER association
  • Velocardiofacial syndrome (VCFS). Shprintzen syndrome.
  • Verheij syndrome. VRJS. Chromosome 8q24.3 Deletion Syndrome.
  • Vitamin D resistant rickets. Familial Hypophosphatemia.

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  • Waardenburg syndrome type I (WS-I)
  • Waardenburg syndrome type II (WS-II)
  • Waardenburg syndrome type III (WS-III) or Klein-Waardenburg syndrome.
  • Waardenburg-Shah syndrome.
  • Walker-Warburg syndrome. Cerebro-ocular dysgenesis-muscular dystrophy (COD-MD) syndrome.
  • West syndrome. Infantile spasms
  • Wiedemann-Steiner syndrome. WSS. Growth deficiency and mental retardation with facial dysmorphism
  • Williams syndrome
  • Wilson's Disease (Hepatolenticular Degeneration)
  • Wolfram syndrome
  • Wolman's disease. Lysosomal acid lipase deficiency. Cholesterol ester storage disease.

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  • Xanthinuria type I. Xanthine dehydrogenase deficiency.
  • Xanthinuria type II. Combined deficiency of xanthine dehydrogenase and aldehyde oxidase.
  • Xeroderma pigmentosum (De Sanctis-Cacchione syndrome)

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  • Zunich neuroectodermal syndrome. CHIME syndrome