Clinical AreaPaediatrics
Associated diseases
- Opitz G/BBB syndroms, differential diagnosis
- (Warburg-)Micro syndrome, differential diagnosis
- 3-Methylglutaconaziduria type 7, differential diagnosis; Caseinolytic peptidase B deficiency
- 46XX - disorders of sex development, differential diagnosis
- 46XX - gonadal dysgenesis, differential diagnosis
- 46XX - indifferentes Genitale, Differentialdiagnose
- 46XX - testicular disorders of testes development, non-syndromic; differential diagnosis
- 46XY - disorders of sexual development, differential diagnosis
- 46XY - disorders of testes development, non-syndromic; differential diagnosis
- 46XY - gonadal dysgenesis, differential diagnosis
- 5-FU toxicity
- Aarskog [Scott] syndrome, differential diagnosis
- Aarskog syndrome
- Abetalipoproteinaemia
- Absence epilepsy, atypical; differential diagnosis
- Absence epilepsy, children + youths; differential diagnosis
- Aceruloplasminemia, differential diagnosis
- Achondrogenesis type IB
- Achondrogenesis type II
- Achondroplasia
- Achromatopsia, differential diagnosis
- Acid sphingomyelinase deficiency - Niemann-Pick disease type A; differential diagnosis
- Acrocallosal syndrome, differential diagnosis
- Acrogigantism, differential diagnosis
- ACTH deficiency
- Action myoclonus-renal failure syndrome, differential diagnosis
- Adams-Oliver syndrome, differential diagnosis
- Adenosine deaminase 2 deficiency, differential diagnosis
- Adipositas, pure; differential diagnosis
- Adrenal insufficiency, differential diagnosis
- Adrenogenital syndrome, differential diagnosis
- Adrenoleukodystrophy, X linked
- Ahornsirup-Krankheit, Differentialdiagnose
- Aicardi syndrome, differential diagnosis
- Aicardi-Goutières syndrome, differential diagnosis
- Akne inversa, familial; differential diagnosis
- Alagille syndrome, differential diagnosis
- Alkaptonuria, differential diagnosis
- Allan-Herndon-Dudley syndrome, differential diagnosis
- Alopecia universalis
- Alport syndrome, differential diagnosis
- Alstrom syndrome
- Alveolar proteinoses, differential diagnosis
- Amyloidosis, differential diagnosis
- Anal atresia/anorectal malformations, differential diagnosis
- Androgen insensitivity syndrome
- Anencephaly + neural tube-defects; differential diagnosis
- Angelman syndrome, differential diagnosis
- Angioedema, hereditary
- Angioedema, hereditary, differential diagnosis
- Aniridia, differential diagnosis
- Anonychia, differential diagnosis
- Anophthalmia, microphthalmia: differential diagnosis
- Anorectal malformations, differential diagnosis
- Aortectasia, thoracic (EBM 11448)
- Aortectasia, thoracic; differential diagnosis
- Apert syndrome
- Aphakia, congenital primary
- Apolipoprotein C-III deficiency
- Arachnodactyly, congenital contractural; differential diagnosis
- Aromatase deficiency
- Aromatase excess syndrome
- ARSACS, differential diagnosis
- Arterial calcification, generalised, infantile
- Arterial-Tortuosity syndrome, differential diagnosis
- Arteriosclerosis, monogenic; differential diagnosis
- Arthrogrypose, Differentialdiagnose
- Arthrogrypose, distal; Differentialdiagnose
- Arthrogryposis, neuromuscular
- Arthrogryposis, renal dysfunction + cholestasis
- Arthrogryposis, syndromal; differential diagnosis
- Arts syndrome
- Ataxia telangiectasia
- Ataxia, autosomal recessive; differential diagnosis
- Ataxia, episodic; differential diagnosis
- Atelosteogenesis I-III, differential diagnosis
- ATP8B1 deficiency, differential diagnosis
- Atrio-ventrikulärer Block, Differentialdiagnose
- Au-Kline syndrome; differential diagnosis
- Autism I
- Autism II
- Autism, susceptibility
- Autismus III
- Autoimmun-hämolytische Anämie; Differentialdiagnose
- Autoimmun-LymphoProliferatives Syndrom, ALPS; Differentialdiagnose
- Autoimmune polyglandular insufficiency
- Axenfeld-Rieger-Syndrom, Differentialdiagnose
- Aymé-Gripp syndrome, differential diagnosis
- Baller-Gerold syndrome, differential diagnosis
- Baraitser-Winter-Syndrom, Differentialdiagnose
- Bardet-Biedl syndrome, differential diagnosis I
- Bardet-Biedl syndrome, differential diagnosis II [expanded supplementary panel]
- Barth syndrome, differential diagnosis
- Bartter syndrome type 1-4, differential diagnosis
- Beckwith-Wiedemann syndrome, congenital overgrowth; differential diagnosis
- Beckwith-Wiedemann syndrome, differential diagnosis
- Berardinelli-Seip congenital lipodystrophy, differential diagnosis
- Beta globinopathies
- Bicuspid aortic valve, differential diagnosis
- Biotin-responsive basal ganglia disease
- Biotinidase deficiency, differential diagnosis
- Birt-Hogg-Dubé syndrome, differential diagnosis
- Blepharophimosis-Ptosis-Epicanthus inversus syndrome, differential diagnosis
- Bloom syndrome, differential diagnosis
- Bohring-Opitz syndrome, differential diagnosis
- Bone marrow dysfunction, hereditary; differential diagnosis
- Brachydaktylie, Differentialdiagnose
- Bradyarrythmie, kardiale; Differentialdiagnose
- Bradyopsia
- Brain tumors, susceptibility
- Brain vessel malformations, differential diagnosis
- Branchio-oculo-facial syndrome, differential diagnosis
- Branchio-oto-renal syndrome
- Bronchiektasen, Differentialdiagnose
- Bruck-Syndrom 1 + 2
- Burn-McKeown syndrome, differential diagnosis
- C1Q deficiency
- CACNA1C gene-related disorders, differential diagnosis
- Campomelic dysplasia, differential diagnosis
- Camurati-Engelmann disease, differential diagnosis
- Capillary malformation-arteriovenous malformation, differential diagnosis
- CARASIL
- Cardio-facio-cutaneous syndrome, differential diagnosis
- Carnitine Palmitoyltransferase II Deficiency, differential diagnosis
- Carnitine-Palmitoyl-Transferase IA Deficiency, differential diagnosis
- CASK gene-related disorders, differential diagnosis
- Cataract with other eye anomalies, differential diagnosis
- Cataract, differential diagnosis
- CEBALID syndrome, MCTT syndrome
- Cerebrotendinous xanthomatosis, CTX
- Cerebrotendinous Xanthomatosis, CTX; differential diagnosis
- Ceroid-Lipofuszinosen, neuronale; Differentialdiagnose
- Char syndrome, differential diagnosis
- CHARGE syndrome, differential diagnosis
- Chediak-Higashi syndrome
- Cherubism, differential diagnosis
- CHILD-/CK-Syndrom, Differentialdiagnose
- Choanalatresie, Differentialdiagnose
- Cholestase, intrahepatische, Schwangerschaft; Differentialdiagnose
- Cholestase, progressive familiäre intrahepatische, Differentialdiagnose
- Cholestasis, congenital + adult; differential diagnosis
- Chondrodysplasia punctata, differential diagnosis
- Choroideremia
- Christianson syndrome, differential diagnosis
- Chromosomen-Aberration, postnatal
- Citrin deficiency, neonatal intrahepatic cholestasis; differential diagnosis
- Clefting, non-syndromal; differential diagnosis
- Cleidocranial dysostosis
- Cockayne syndrome
- Cockayne syndrome/Trichothiodystrophy/Xeroderma pig., differential diagnosis
- Coenzyme Q10 deficiency, differential diagnosis
- Coffin-Lowry syndrome, differential diagnosis
- Coffin-Siris syndrome, differential diagnosis
- Cohen syndrome
- Conduction disorders, cardiac; differential diagnosis
- Congenital cataracts, facial dysmorphism + neuropathy
- Congenital disorders of glycosylation, CDG; differential diagnosis
- Contracture syndrome, lethal congenital; differential diagnosis
- Corneal disorders, except for dystrophies; differentialdiagnosis
- Corneal dystrophy, differential diagnosis
- Cornelia-de Lange syndrome, differential diagnosis
- Cortex malformations, differential diagnosis
- Cortical dysplasia, complex, with other brain malformations; differential diagnosis
- Costeff syndrome, differential diagnosis
- Costello syndrome, differential diagnosis
- Cowden syndrome, differential diagnosis
- Craniofacial microsomia, differential diagnosis
- Craniosynostosis [frequently mutated genes]
- Craniosynostosis, differential diagnostics
- Creatin deficiency syndromes, differential diagnosis
- Crigler-Najjar-Syndrom I
- Crigler-Najjar-Syndrom II
- Crouzon syndrome
- Currarino triad
- Cutis laxa, differential diagnosis
- CYP2D6 bei geplanter M. Gaucher-Therapie
- Cystic fibrosis - full sequence
- Cystinosis
- Cystinuria type 1-3
- Cystische Fibrose, Differentialdiagnose
- Cystische Fibrose, häufigste Mutationen
- Danon disease, differential diagnosis
- Déjerine-Sottas syndrome
- Dentato-rubro-pallido-luysian atrophy
- Denys-Drash syndrome
- Deoxyguanosine Kinase Deficiency, mtDNA depletions syndrome, hepatocerebral; differential diagnosis
- Diabetes bei Autoimmunität in mehreren Organen, Differentialdiagnose
- Diabetes mellitus, genetic
- Diabetes mellitus, MODY
- Diabetes mellitus, monogen mit Zusatzsymptomen; Differentialdiagnose
- Diabetes mellitus, neonatal with congenital hypothyreosis
- Diabetes mellitus, neonatal; Differentialdiagnose
- Diabetes mellitus, transient neonatal; differential diagnosis
- Diabetes mellitus, type 2, susceptibility
- Diamond-Blackfan anemia, aplastic; differential diagnosis
- Diaphragmatic hernias, congenital, differential diagnosis
- Dopamine beta-hydroxylase deficiency, differential doagnosis
- Ductal plate malformations, differential diagnosis
- Dwarfism, diastrophic
- Dwarfism, idiopathic; differential diagnosis
- Dysautonomia, familial; differential diagnosis
- Dysferlinopathy, Differential diagnosis
- Dyskeratosis congenita, differential diagnosis
- Dyskeratosis congenita, X-chromosomal
- Dystonia-Parkinson syndrome, diufferential diagnosis
- Dystonie, Dopa-responsiv; Differentialdiagnose
- Dystonie, Kindesalter; Differentialdiagnose
- Dystrophy, myotonic 1
- Ectodermal dysplasia, hypohydrotic; differential diagnosis
- Ectopia-Lentis syndrome, differential diagnosis
- Ectopia-lentis-[et-pupillae-]Syndrom, incl. minimaler Linsen-/Pupillenveränderungen
- Ehlers-Danlos-Syndrom; Differentialdiagnose
- Ektodermale Dysplasie, hydrotische, Clouston; Differentialdiagnose
- Ektodermale Dysplasie, ohne An-/Hypohydrosis; Differentialdiagnose
- Ellis-van-Creveld-Syndrom, Differentialdiagnose
- Emanuel syndrome, differential diagnosis [post-cytogenetic]
- Emery-Dreifuss muscular dystrophy, differential diagnosis
- Enlarged Parietal Foramina, differential diagnosis
- Enzephalopathie, mitochondriale; Differentialdiagnose
- Epidermodysplasia verruciformis, differential diagnosis
- Epidermolysis bullosa dystrophica, Differentialdiagnose
- Epidermolysis bullosa junctionalis, Differentialdiagnose
- Epidermolysis bullosa simplex with pyloric atresia
- Epidermolysis bullosa simplex, Differentialdiagnose
- Epidermolysis bullosa, Differentialdiagnose
- Epilepsie, erbliche Syndrome, Differentialdiagnose
- Epilepsie, progressive myoklonische; Differentialdiagnose
- Epilepsies, metabolic; differentialdiagnosis
- Epilepsy, early infantile; differential diagnosis
- Epilepsy, familial focal; differential diagnosis
- Epilepsy, generalized with fever attacks
- Epileptic encephalopathy, early infantile -"Dravet syndrome"; differential diagnosis
- Epileptische Enzephalopathie, frühinfantil; Differentialdiagnose
- Erythromelalgia, primary
- Erythrozytenmembran-Defekte, Differentialdiagnose
- Erythrozytose, familiäre hereditäre; Differentialdiagnose
- Esophagus atresia/tracheo-esophageal fistulas, differential diagnosis
- Exostosen, multiple; Differentialdiagnose
- Factor V + VIII deficiency, combined
- Fallot-Tetralogie, Differentialdiagnose
- Familial mediterranean fever
- Fanconi anemia, differential diagnosis
- Fanconi-Bickel syndrome
- Farber lipogranulomatosis
- Fatty acid hydroxylase-associated neurodegeneration, differential diagnosis
- Feingold syndrome
- Fettsäure-Oxidationsstörungen, Differentialdiagnose
- FGFR-craniosynostosis syndromes, differential diagnosis
- Fibrodysplasia ossificans progressiva, differential diagnosis
- Fibrose der äußeren Augenmuskeln, kongenitale; Differentialdiagnose
- Fieber-Syndrome, hereditäre periodische; Differentialdiagnose
- Floating-Harbor syndrome, differential dignosis
- Floppy infant
- Folate malabsorption, hereditary; differential diagnosis
- Folsäure-Defizienz, zerebrale; Differentialdiagnose
- Fragile-X syndrome
- Fraser syndrome, differential diagnosis
- Frontonasal dysplasia + Opitz GBBB syndrome, differential diagnosis
- Fructose intolerance, hereditary
- Fructose-1,6-biphosphatase deficiency, differential diagnosis
- Fucosidosis
- Fukuyama Congenital Muscular Dystrophy, differential diagnosis
- Gabriele-de Vries syndrome, differential diagnosis
- Galactosialidosis
- Galaktosemia, differential diagnosis
- GAND syndrome
- Gastroenterologic epithelial barrier disorders
- Gastroenterologic neuromuscular disorders, differential diagnosis
- Gastrointestinale Tumore, monogen; Differentialdiagnose
- Genitopatellar syndrome/SBBYS syndrome, differential diagnosis
- Gerinnungsstörungen, Koagulopathien; Differentialdiagnose
- Gestörter Cobalamin-Metabolismus, Differentialdiagnose
- Gilbert-[Meulengracht-]Syndrom
- Gilbert-Syndrom
- Gitelman plus Bartter syndromes, differential diagnosis
- Gitelman syndrome
- Gliedergürtel-Muskeldystrophie, autosomal dominant; Differentialdiagnose
- Gliedergürtel-Muskeldystrophie, autosomal rezessiv; Differentialdiagnose
- Gliedergürtel-Muskeldystrophie, X-chromosomal; Differentialdiagnose
- Glioma, susceptibility
- Glomerulonephritis, membranoproliferative; differential diagnosis
- Glucocorticoid deficiency, familial; differential diagnosis
- Glucose transporter type 1 deficiency syndrome, classic; differential diagnosis
- Glukoneogenese-Defizienz, Differentialdiagnose
- Glutaraciduria type I; differential diagnosis
- Glycogen storage disorders
- Glycosylphosphatidylinositol biosynthesis defects, differential diagnosis
- GM1-Gangliosidosis typ I-II, differential diagnosis
- GM1-Gangliosidosis type I-III
- GM1-Gangliosidosis type III, differential diagnosis
- GM2-Gangliosidose, Differentialdiagnose
- GM2-Gangliosidosis, AB variant
- Goldenhar-Syndrom, Differentialdiagnose
- Goltz[-Gorlin]-Syndrom, differential diagnosis
- Gorlin syndrome, differential diagnosis
- Greig cephalopolysyndactyly, differential diagnosis
- Growth hormone deficiency
- Haematological malignancies, germline mutations; differential diagnosis
- Hämaturie, familiäre, Differentialdiagnose
- Hämolytische Anämie, nicht-sphärozytisch
- Hand-foot-uterus syndrome; differential diagnosis
- Hartsfield-Syndrom, Differentialdiagnose
- Hearing loss, autosomal dominant; differential diagnosis
- Hearing loss, autosomal recessive; differential diagnosis
- Hearing loss, sensorineural, type 1
- Hearing loss, X-linked; differential diagnosis
- Helsmoortel-Van der Aa-Syndrom, Differentialdiagnose
- Hemostasis disorders, inherited; differential diagnosis
- Hepatitis-C virus infection, susceptibility + prognosis markers
- Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome, differential diagnosis
- Hermansky-Pudlak-Syndrom, Differentialdiagnose
- Heterotaxy - Situs inversus, differential diagnosis
- Hirnfehlbildungen, kongenital; Differentialdiagnose
- Hodenhochstand, Differentialdiagnose
- Holoprosencephalc, microform; differential diagnosis
- Holoprosencephaly, differential diagnosis
- Holt-Oram syndrome, differential diagnosis
- Homocystinuria, classic; differential diagnosis
- Hornhaut-Dystrophie, stromale, kongenitale; Differentialdiagnose
- Hörverlust bei (Ohr-)Fehlbildungen, Differentialdiagnose
- Hörverlust bei (Ohr-)Fehlbildungen, Differentialdiagnose
- Hörverlust, großes panel incl. Syndrome; Differentialdiagnose
- HT amedes infant gene care
- Huppke-Brendel syndrome; differential diagnosis
- Hutchinson-Gilford progeria syndrome; differential diagnosis
- Hyaline Fibromatose-Syndrom, Differentialdiagnose
- Hydroa vacciniforme
- Hydrocephalus, X linked; differential diagnosis
- Hydrolethalus syndrome, differential diagnosis
- Hyper-IgD syndrome
- Hyper-IgE syndrome, differential diagnosis
- Hyper-IgM-Syndrom, XL; Differentialdiagnose
- Hyperaldosteronism, familial; differential diagnosis
- Hypercholesterinämie, familiäre - PCSK9-Gen
- Hyperekplexia, differential diagnosis
- Hyperglycinemia, non-ketotic; differential diagnosis
- Hyperinsulinism, congenital; differential diagnosis
- Hyperkalzämie, infantile; Differentialdiagnose
- Hyperlipidaemias/Dyslipidaemias, familial; differential diagnosis
- Hyperornithinämie-Hyperammonämie-Homocitrullinurie-Syndrom, Differentialdiagnose
- Hyperoxalurie, primäre; Differentialdiagnose
- Hyperthyroidism; differential diagnosis
- Hypertonie, juvenile extreme; Differentialdiagnose
- Hypertrichosis, konnatal; Differentialdiagnose
- Hypertriglyceridaemia
- Hypertriglycerolaemia, differential diagnosis
- Hypertrophic osteoarthropathy, primary
- Hypobeta-lipoproteinaemia
- Hypobeta-lipoproteinemia, differential diagnosis
- Hypocalciuric hypercalcaemia, differential diagnosis
- Hypochondroplasia
- Hypocitraturia, differential diagnosis
- Hypoglycemia, ketotic; differential diagnosis
- Hypoglykämie, familiärer Hyperinsulinismus; Differentialdiagnose
- Hypogonadismus, männlicher hypergonadotroper; Differentialdiagnose
- Hypogonadismus, weiblicher hypergonadotroper; Differentialdiagnose A
- Hypogonadismus, weiblicher hypergonadotroper; Differentialdiagnose erweitert
- Hypogonadotropic hypogonadism, Kallmann syndrome; differential diagnosis
- Hypomagnesiämie [mit "Gitelman-like"], Differentialdiagnose
- Hypomagnesiämie, genetisch bedingt; Differentialdiagnose
- Hypomagnesiämie, hyperkalziurisch; Differentialdiagnose
- Hypomyelination-congenital cataract syndrome; differential diagnosis
- Hypoparathyreoidismus, familiär; Differentialdiagnose
- Hypophosphataemia / rickets, differential diagnosis
- Hypophosphatasia, adult, infantile, perinatal lethal; differential diagnosis
- Hypophosphatasie, adult, kindlich, perinatal letal
- Hypophysenhormon-Defizienz, kombinierte; Differentialdiagnose
- Hypoplastisches Linksherz-Syndrom, Differentialdiagnose
- Hypospadia, differential diagnosis
- Hypothyroidism, congenital; differential diagnosis
- Hypotonie-Cystinurie-Syndrom
- Hypourikaemia, renal; differential diagnosis
- Hypoventilationssyndrom, zentrales; Differentialdiagnose
- Ichthyosis + related dyskeratinoses, differential diagnosis
- Ichthyosis, congenital, recessive; differential diagnosis
- IMAGe-Syndrom, Differentialdiagnose
- Imerslund-Gräsbeck syndrome
- Immunodeficiency, primary; differential diagnosis
- Imprinting disturbances, multilocus
- Imprinting-Störungen/Epigenetische Signaturen
- Infantile-Onset Spinocerebellar Ataxia; differential diagnosis
- Inflammatory bowel diseases + infantile enterocolitis (monogenic)
- Insulin-like growth factor 1 deficiency
- Intellectual deficit + (ponto-)cerebellar hypoplasia, differential diagnosis
- Intellectual deficit + epilepsy / encephalopathy
- Intellectual deficit + macrocephaly, differential diagnosis
- Intellectual deficit + metabolism disorders
- Intellectual deficit + microcephaly, differential diagnosis
- Intellectual deficit + small stature, differential diagnosis
- Intellectual deficit, autosomal dominant
- Intellectual deficit, autosomal recessive, no other symptoms
- Intellectual deficit, cerebro-organic
- Intestinal failure / Diarrhea, differential diagnosis
- IPEX syndrome, differential diagnosis
- Iron-refractory iron deficiency anemia, IRIDA; differential diagnosis
- Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency; differential doagnosis
- Isolated Sulfite Oxidase Deficiency; differential diagnosis
- Jackson-Weiss syndrome
- Jervell- + Lange-Nielsen syndrome, differential diagnosis
- Jeune syndrome, differential diagnosis
- Joubert syndrome [rarely mutated genes]
- Joubert syndrome, differential diagnosis
- Juvenile hemochromatosis [type 2], differential diagnosis
- Kabuki syndrome, differential diagnosis
- Kalzinose, tumoröse; Differentialdiagnose
- Kammerflimmern I, Differentialdiagnose
- Kammerflimmern II, Differentialdiagnose erweitert
- Kanal-Erkrankungen, Gehirn; Differentialdiagnose
- Kardiomyopathie, dilatative; Differentialdiagnose
- Kardiomyopathie, hypertrophe; Differentialdiagnose
- Kardiomyopathie, pädiatrisch mit zusätzl. Phänotyp; Differentialdiagnose
- Kardiomyopathie, pädiatrisch; Differentialdiagnose
- Kardiomyopathie, restriktive; Differentialdiagnose
- Kartagener syndrome/primary ciliary dyskinesia, differential diagnosis
- KBG syndrome
- KBG syndrome, differential diagnosis I
- KBG syndrome, differential diagnosis II
- Kearns-Sayre syndrome, differential diagnosis
- Kennedy syndrome
- Kenny-Caffey-Syndrom
- Keratose, Keratoderma, Erythrokeratoderma; Differentialdiagnose
- Ketogenesis disorders, differential diagnosis
- Ketolyse-Störungen, Differentialdiagnose
- Kidney cysts, medullary, type 1+2
- Kindler syndrome; differential diagnosis
- Kleefstra-Syndrom, Differentialdiagnose
- Kleine-Levin-Syndrom, Differentialdiagnose
- Kleinhirn-Hypoplasie, Differentialdiagnose
- Kleinwuchs im Kindesalter, Differentialdiagnose
- Kleinwuchs, frühe Kindheit; Differentialdiagnose
- Kleinwuchs, idiopatisch [familiär]; SHOX-Gen
- Kleinwuchs, idiopatisch; SHOX-Gen
- Klippel-Feil syndrome
- Klumpfuß, Differentialdiagnose
- Knorpel-Haar-Hypoplasie-/anauxetische Dysplasie-Spektrum, Differentialdiagnose
- Kohlenhydrat-Stoffwechsel-Störungen; Differentialdiagnose
- Koolen-de Vries syndrome; differential diagnosis
- L1-Syndrom, Differentialdiagnose
- Lactose intolerance, primary
- Lafora syndrome, differential diagnosis
- Laing distal myopathy; differential diagnosis
- Larsen-Syndrom, Differentialdiagnose
- Lateral meningocele syndrome, differential diagnosis
- Lebervenen-Verschlusskrankheit + Immunschwäche, Differentialdiagnose
- Legius syndrome; differential diagnosis
- Leigh syndrome, differential diagnosis
- Lens dislocation
- Léri-Weill-Syndrom
- Lesch-Nyhan syndrome
- Leukaemia, chronic myeloid; hereditary
- Leukämie, akute lymphoblastische, hereditär; Suszeptibilität
- Leukämie, akute myeloische; hereditär
- Leukämie, chronisch myelomonozytäre; hereditär
- Leukencephalopathy, differential diagnosis
- Leukenzephalopathie mit Hirnstamm-, Rückenmarksbeteiligung + Laktaterhöhung; Differentialdiagnose
- Leukodystrophie, hypomyelinisierende; Differentialdiagnose
- Leukodystrophy, early onset; differential diagnosis
- Leukodystrophy, metachromatic
- Liddle syndrome 1-3
- Lipodystrophy, familial; differential diagnosis
- Lipoidproteinosis, differential diagnosis
- Lipoprotein lipase deficiency, differential diagnosis
- Lippen-Kiefer-Gaumen-(Gesichts-)Spalten, Differentialdiagnose
- Lissenzephalie, Differentialdiagnose
- Loeys-Dietz-/ Marfan-/ vaskuläres Ehlers-Danlos-Syndrom, Differentialdiagnose
- Long-QT-Syndrom, Differentialdiagnose
- Lowe syndrome, differential diagnosis
- Lupus [erythematosus], "monogenic"; differential diagnosis
- Lupus erythematodes Suszeptibilität
- Lymph edema, congenital hereditary; differential diagnosis
- Lymphödem-Distichiasis, Differentialdiagnose
- Lymphohistiozytosis, familial hemophagocytic; differential diagnosis
- Lymphoid malignancy, predisposition
- Lymphom, peripheres T-Zell-; somatische Mutationen
- Lymphoproliferative disease, X chromosomal; differential diagnosis
- Lysinuric protein intolerance, differential diagnosis
- Macrosomia, congenital; differential diagnosis
- Macular degeneration, early onset; differentialdiagnosis
- Mainzer-Saldino syndrome
- Malignant hyperthermia/central core disease/multiminicore disease
- Maligne Hyperthermie-Suszeptibilität, Differentialdiagnose
- Mamma aplasia / hypoplasia
- Mannosidase deficiency
- Mannosidase deficiency; differential diagnosis
- Marfan syndrome, differential diagnosis
- Marinesco-Sjögren syndrome, differential diagnosis
- Martsolf syndrome, differential diagnosis
- Mayer-Rokitansky-Küster-Hauser syndrome, differential diagnosis
- McCune-Albright syndrome/Fibrous dysplasia, differential diagnosis
- McKusick-Kaufman syndrome; differential diagnosis
- MDS - mtDNA depletion syndromes, differential diagnosis
- Meacham syndrome
- Meckel[-Gruber] syndrome, differential diagnosis
- Medullär-zystische Nierenerkrankung [ADTKD]; Differentialdiagnose
- Megacystis, LUTO; differential diagnosis
- Megacystis, MMIHS; differential diagnostics
- Megalencephalic leukoencephalopathy with subcortical cysts, differential diagnosis
- Meier-Gorlin-Syndrom, Differentialdiagnose
- Melanom + Nierenzellkarzinom, MITF-assoziiert
- Melanomas, familial + uveal; differential diagnosis
- MELAS - mt enzephalomyopathy, lactacidosis, stroke
- Meningioma, multiple, familial; susceptibility
- Menke-Hennekam syndrome 1; Rubinstein-Taybi syndrome 1
- Menke-Hennekam-Syndrom 1; Rubinstein-Taybi-Syndrom 1
- Menke-Hennekam-Syndrom 2; Rubinstein-Taybi-Syndrom 2
- Mentale Retardierung - intellektuelle Defizite; Differentialdiagnose
- Mentale Retardierung bei kortikaler Dysplasie, Differentialdiagnose
- Mentale Retardierung bei Lissenzephalie, Differentialdiagnose
- Mentale Retardierung bei Megalenzephalie, Differentialdiagnose
- Mentale Retardierung mit Hyperphosphatasie, Differentialdiagnose
- Mentale Retardierung, X-chromosomal, nicht-syndromisch; Differentialdiagnose
- MEPAN syndrome, differential diagnosis
- MERRF - Myoklonus-Epilepsie mit ragged-red fibers
- Methylmalonazidämie ohne Homocystinurie, Differentialdiagnose
- Microcephaly (double cortex/subcortical band heterotypia), differential diagnosis
- Microcephaly (patients with Seckel symptoms)
- Microcephaly [patients without Seckel symptoms], differential diagnosis
- Microcephaly + holoprosencephaly spectrum (including septooptic dysplasia); differential diagnosis
- Microcephaly + lissencephaly + cerebellar hypoplasia
- Microcephaly + polymicrogyria, differential diagnosis
- Microcephaly + pontocerebellar hypoplasia, differential diagnosis
- Microcephaly + pseudo TORCH, differential diagnosis
- Microcephaly-Capillary Malformation Syndrome, differential diagnosis
- Microcephaly, isolated, primary/secondary; differential diagnosis
- Microcephaly, predominantly secondary, syndromal; differential diagnosis
- Microcephaly, prenatal + postnatal; differential diagnosis
- Microcephaly, primary/secondary + growth retardation; differential diagnosis
- Microcephaly, short stature, polymicrogyria with / without seizures
- Microphthalmia with Linear Skin Defects Syndrome, differential diagnosis
- Migraine, hemiplegic; differential diagnosis
- Mikrozephalie mit Dysgyrie, Differentialdiagnose
- Mikrozephalie mit Hydranenzephalie, Differentialdiagnose
- Mikrozephalie mit Kleinhirnhypoplasie, Differentialdiagnose
- Mikrozephalie mit Lissenzephalie [dicker Kortex], Differentialdiagnose
- Mikrozephalie mit Lissenzephalie, dünner Kortex
- Mikrozephalie mit mandibulofazialer Dysostose, Differentialdiagnose
- Mikrozephalie mit Muskelschwäche, Differentialdiagnose
- Mikrozephalie mit periventrikulären nodulären Heterotopien, Differentialdiagnose
- Mikrozephalie, Differentialdiagnose
- MIRAGE syndrome, differential diagnosis
- Mitochondrial diseases, complex I deficiency; differential diagnosis
- Mitochondrial diseases, complex III deficiency; differential diagnosis
- Mitochondrial diseases, complex IV deficiency; differential diagnosis
- Mitochondrial diseases, complex V deficiency; differential diagnosis
- Mitochondrial liver diseases, difrferential diagnosis
- Mitochondriale Erkrankungen; Komplex II-Defizienz; Differentialdiagnose
- MNGIE - Mitochondrial neurogastrointestinal encephalomyopathy
- Möbius-Syndrom, Differentialdiagnose
- Monosomy 7 predisposition syndromes, differential diagnosis
- Morbus Alexander
- Morbus Alexander, Differentialdiagnose
- Morbus Caffey, differential diagnosis
- Morbus Crohn, genetic predisposition
- Morbus Danon
- Morbus Fabry
- Morbus Gaucher
- Morbus Gaucher, DD congenital ichthyosis, AR
- Morbus Gaucher, DD hydrops fetalis
- Morbus Gaucher, differential diagnosis
- Morbus Hirschsprung, syndromisch; Differentialdiagnose
- Morbus Huntington
- Morbus Huntington, differential diagnosis
- Morbus Krabbe
- Morbus Krabbe, differential diagnosis
- Morbus Menière, familial; differential diagnosis
- Morbus Niemann-Pick type A/B
- Morbus Niemann-Pick type C
- Morbus Niemann-Pick, type C; differential diagnosis
- Morbus Pompe
- Morbus Pompe, differential diagnosis
- Morbus Sandhoff, differential diagnosis
- Morbus Schindler
- Morbus Stargardt, differential diagnosis
- Morbus Wilson
- Morbus Wolman, Cholesterol ester storage disease
- Morbus Wolman, differential diagnosis
- Mowat-Wilson syndrome; differential diagnosis
- MPPH-Syndrom, Differentialdiagnose
- mtDNA maintenance disorders, differential diagnosis
- Muenke syndrome
- Mukolipidosen, Differentialdiagnosen
- Mukopolysaccharidosen, Differentialdiagnose I
- Mukopolysaccharidosen, Differentialdiagnose II
- Multiple Acyl-CoA Dehydrogenase Deficiency, neonatal; differential diagnosis
- Multiple Acyl-CoA Dehydrogenase Deficiency, non-neonatal; differential diagnosis
- Multiple endocrine neoplasia, MEN; differential diagnosis
- Multiple endokrine Tumore, Differentialdiagnose
- Multiple epiphyseal dysplasia, differential diagnosis
- Multiple gutartige Hauttumore, monogen bedingt; Differentialdiagnose
- Multiples-Pterygium-Syndrom, lethal; Differentialdiagnose
- Muscle-eye-brain disease, differential diagnosis
- Muscular dystrophy Duchenne/Becker
- Muscular dystrophy, congenital; differential diagnosis
- Muscular dystrophy, congenital; expanded differential diagnosis
- Muscular dystrophy, facio-scapulo-humeral 2; differential diagnosis FSHD
- Muskel-Glykogenosen, Differentialdiagnose
- Mutation confirmation diagnostics for metabolic disorders after newborn screening
- Myasthenes Syndrom, kongenital; Differentialdiagnose
- Myoklonus-Dystonie, Differentialdiagnose
- Myopathie, distal; Differentialdiagnose
- Myopathie, mitochondriale, incl. CPEO; Differentialdiagnose
- Myopathie, myofibrilläre; Differentialdiagnose
- Myopathie, nemaline; Differentialdiagnose
- Myopathy, congenital; differential diagnosis
- Myopathy, tubular aggregated; differential diagnosis
- Myopie, syndromisch; Differentialdiagnose
- Myotonia congenita
- Nachtblindheit, kongenital; Differentialdiagnose
- Naevus, epidermal; differential diagnosis
- Nail dysplasia, congenital; differential diagnosis
- Nail-patella syndrome
- Narkolepsie, Differentialdiagnose
- Nasu-Hakola disease, differential diagnosis
- Nephronophthisis, tubulointerstitial kidney disease; differential diagnosis
- Nephrotic syndrome, infantile, Steroid-resistant
- Nephrotic syndrome, infantile, Steroid-resistant; large panel
- Netzhaut-Ablösung, Differentialdiagnose
- Neuralgic amyotrophy, differential diagnosis
- Neurodegeneration with brain iron accumulation, NBIA; differential diagnosis
- Neuroendocrine tumors/polyposis, pediatric; differential diagnosis
- Neurofibromatosis, differential diagnosis
- Neuronopathie/Muskelatrophie, distale hereditäre; Differentialdiagnose
- Neuropathie, CMT/HMSN, infantil/juvenil; autosomal dominant/X-gebunden; Differentialdiagnose
- Neuropathie, CMT/HMSN; Differentialdiagnose
- Neuropathie, CMT1/-4 / HMSNI/-IV, demyelinisierend, AD/AR; Differentialdiagnose
- Neuropathie, CMT1/-4/-X, demyelinisierend; Differentialdiagnose
- Neuropathie, CMT2/HMSNII, axonal; Differentialdiagnose
- Neuropathie, distale hereditäre motorische / Muskelatrophien, distale spinale; Differentialdiagnose
- Neuropathie, hereditär, infantil/juvenil; Differentialdiagnose
- Neuropathie, hereditäre motorisch-sensorische, demyelinisierend, Typ I; Differentialdiagnose
- Neuropathie, hereditäre motorische, Kinder/Jugendliche; Differentialdiagnose
- Neuropathie, hereditäre sensorische + autonome - HSN/HSAN; Differentialdiagnose
- Neuropathie, hereditäre sensorische; Differentialdiagnose
- Neuropathies: HSN - HSAN - SFN; differential diagnosis
- Neuropathy, auditory; differential diagnosis
- Neuropathy, hereditary motor-sensory, demyelinating; type I - step 1
- Neuropathy, hereditary sensible + autonomous, infantile/juvenile; differential diagnosis
- Neuropathy, hereditary sensory and autonomic type 2; differential diagnosis
- Neuropathy, hereditary sensory and autonomous - HSN/HSAN
- Neuropathy, hereditary with liability for pressure pulsies - HNPP; differential diagnosis
- Neutropenia, cyclic; differential diagnosis
- Neutropenie, kongenital; Differentialdiagnose
- Nicolaides-Baraitser syndrome + Coffin-Siris syndrome; differential diagnosis
- Niere + ableitende Harnwege, kongenitale Anomalien [CAKUT]; Differentialdiagnose
- Nierenagenesie/Nieren(a)dysplasie, Differentialdiagnose
- Noonan syndrome, differential diagnosis
- Noonan-Syndrom mit multiplen Lentigines, Differentialdiagnose [obsolet: LEOPARD-S.]
- Nystagmus, infantile; differential diagnosis
- Okihiro syndrome
- Okulo-zerebro-faziales Syndrom, Typ Kaufman; Differentialdiagnose
- Oligodontia, anodontia; differential diagnosis
- Omphalozele, Bauchwanddefekt; Differentialdiagnose
- Optikus-Atrophie, autosomal dominant; Differentialdiagnose
- Optikus-Atrophie, hereditäre; Differentialdiagnose
- Oro-facio-digital syndrome, differential diagnosis
- Osteoarthropathy, primary hypertrophic
- Osteochondritis dissecans, differential diagnosis
- Osteochondromas, multiple; differential diagnosis
- Osteogenesis imperfecta, differential diagnosis
- Osteopetrosis, differential diagnosis
- Osteoporosis, monogenic; differential diagnosis
- Otopalatodigital syndrome
- Ovarian insufficiency, primary; differential diagnosis
- Overgrowth syndromes, differential diagnosis
- Pachyonychia congenita, differential diagnosis
- Pädiatrische Tumor-Prädisposition, hereditär
- Pallister-Hall syndrome, differential diagnoses
- Pancreatitis, chronic; differential diagnosis
- Pankreas-Karzinom, nach chronischer Pankreatitis; Differentialdiagnose
- Pantothenate-kinase-associated neurodegeneration, differential diagnosis
- Paraganglioma / pheochromocytoma, differential diagnosis
- Paraganglioma 1 / phaeochromocytoma
- Paraganglioma 3 / phaeochromocytoma
- Paraganglioma 4 / phaeochromocytoma
- Paralyse, hypokaliämische periodische; Differentialdiagnose
- Paralysis, hypercaliaemic periodic
- Paralysis, hypocaliaemic periodic
- Paramyotonia congenita
- Parkinson-Syndrom + -Krankheit, Differentialdiagnose
- Paroxysmal CNS disorders [predominantly dyskinesia, predominantly episodic ataxia]; differential diagnosis
- Paroxysmal non-kinesigenic dyskinesia, differential diagnosis
- Pediatric diseases, genetic; differential diagnosis
- Pelizaeus-Merzbacher disease
- Pena-Shokeir-Syndrom I, Differentialdiagnose
- Pena–Shokeir syndrome II
- Pendred syndrome, differential diagnosis
- Perlman syndrome
- Peroxisome biogenesis disorders, large panel
- Peroxisomen-Biogenese-Störungen, Zellweger-Spektrum; Differentialdiagnose
- Perrault syndrome, differential diagnosis
- Persistent Mullerian duct syndrome
- PFAPA-Syndrom, Prädisposition/Assoziation; Differentialdiagnose
- Pfeiffer syndrome 1-3
- Phenylketonuria, differential diagnosis
- Photosensitivität, kutane; Differentialdiagnose
- Piebaldismus, Differentialdiagnose
- Pierre-Robin sequence, differential diagnosis
- Pitt-Hopkins syndrome, differential diagnosis
- Pituitary hormone deficiency, differential diagnosis
- Pituitary tumors, differential diagnosis
- PLA2G6-associated neurodegeneration
- Plötzlicher Tod (<40 Jahren), Differentialdiagnose
- Podozytopathien, Differentialdiagnose
- Podozytopathien, syndromal; Differentialdiagnose
- POI - Premature Ovarian Insufficiency [replaces POF]
- Poly-/Syndaktylie, prä- + postaxial; Differentialdiagnose
- Polycystic liver disease, differential diagnosis
- Polycythemia/paraganglioma/pheochromocytoma, differential diagnosis
- Polymicrogyria, asymmetric
- Polyposis coli, Differentialdiagnose
- Polyposis syndrome, juvenile
- Polyposis, APC-assoiated, differential diagnosis
- Polyposis, familial adenomatous 4
- Polyposis, familial adenomatous; FAP
- Polyposis, MUTYH associated
- Porokeratosis, familial; differential diagnosis
- Porphyria, differential diagnosis
- Porphyria, erythropoetic 1
- Prader-Willi syndrome / Angelman syndrome
- Prader-Willi syndrome, differential diagnosis
- Pränatal auffällige Nackentransparenz, Differentialdiagnose
- Pränatal auffällige Nieren/Urogenitalsystem, Differentialdiagnose
- Pränatal auffälliges Herz, Differentialdiagnose
- Pränatale Holoprosenzephalie, Differentialdiagnose
- Pränatale pontocerebelläre Hypoplasie, Differentialdiagnose
- Pränatale Wachstumsverzögerung, Differentialdiagnose
- Pränataler Hydrozephalus, Differentialdiagnose
- Pränatales Noonan-Syndromspektrum, Differentialdiagnose
- Prenatal akinesia / hypokinesia
- Prenatal anophthalmia / microphthalmia
- Prenatal Dandy-Walker syndrome
- Prenatal DSD
- Prenatal Joubert syndrome spectrum
- Prenatal lissencephaly
- Prenatal VATER/VACTERL association
- Prenatally abnormal corpus callosum
- Prenatally abnormal fetus - rare syndrome?
- Prenatally abnormal limbs
- Prenatally abnormal skeleton, differential diagnosis
- Primrose syndrome, differential diagnosis
- Progerie-Syndrome, Differentialdiagnose
- Propionic acidaemia
- Protein C deficiency; thrombophilia
- Protein S deficiency; thrombophilia
- Proteus syndrome
- Pseudohypoaldosteronism, differential diagnosis
- Pseudohypoparathyreoidism, differential diagnosis
- Pseudohypoparathyreoidismus, Pseudopseudohypoparathyreoidismus
- PTEN hamartoma tumor syndrome
- Pubertas praecox, central; differential diagnosis
- Pulmonal surfactant protein anomaly, differential diagnosis
- Pulmonale veno-okklusive Krankheit 1+2, Differentialdiagnose
- Pyruvatdehydrogenase deficiency, differential diagnosis
- Pyruvate Carboxylase Deficiency, differential diagnosis
- Refsum-Syndrom, adult, incl. Zellweger-Spektrum; Differentialdiagnose
- Renal coloboma syndrome
- Renal-tubular acidosis, differential diagnosis
- Renal-tubuläre Dysgenesie, Differentialdiagnose
- Retinitis pigmentosa, autosomal dominant; Differentialdiagnose
- Retinitis pigmentosa, autosomal rezessiv; Differentialdiagnose
- Retinitis pigmentosa, ohne weitere Informationen [Einstiegs-panel]
- Retinitis pigmentosa, syndromal
- Retinitis pigmentosa, X-gekoppelt; Differentialdiagnose
- Rett syndrome
- Rett syndrome, congenital variant
- Rett-like-Syndrom, Differentialdiagnose
- Rhabdoid tumor predisposition
- Rhabdomyosarkom, familiär; Differentialdiagnose
- Riboflavin transporter deficiency, differential diagnosis
- Rickets, hypophosphataemic; differential diagnosis
- Riesenaxon-Neuropathie, Differentialdiagnose
- Ritscher-Schinzel syndrome, differential diagnosis
- Roberts-Syndrom, Differentialdiagnose
- Robinow syndrome, autosomal recessive
- Robinow-Syndrom, AD/XLR; Differentialdiagnose
- Rotor syndrome, differential diagnosis
- Saethre-Chotzen syndrome + Münke syndrome, differential diagnosis
- SANDD syndrome
- Sanjad-Sakati syndrome
- Sarkoidose, Prädisposition
- Schilddrüsen-Dysgenesie, Differentialdiagnose
- Schilddrüsen-Dyshormonogenese, Differentialdiagnose
- Schilddrüsen-Karzinom, hereditäres medulläres; Differentialdiagnose
- Schimmelpenning-Feuerstein-Mims syndrome, differential diagnosis
- Schizencephaly
- Schlafstörungen, primär; Differentialdiagnose
- Schwartz-Jampel syndrome, differential diagnosis
- Schwerer kombinierter Immundefekt, SCID; Differentialdiagnose
- Segawa syndrome, differential diagnosis
- Seltene hämatologische neoplastische Syndrome; hereditär
- Sensenbrenner syndrome, differential diagnosis
- Septooptische Dysplasie-Spektrum, Differentialdiagnose
- SERAC1 deficiency, differential diagnosis
- Short bowel syndrome, congenital
- Short-rib thoracic dysplasia. differential diagnosis
- Sialinic acid storage disorder, differential diagnosis
- Sifrim-Hitz-Weiss syndrome, differential diagnosis
- Silver-Russell syndrome, differential diagnosis
- Simpson-Golabi-Behmel syndrome, differential diagnosis
- Sinusknotendysfunktion, familiäre; Differentialdiagnose
- Skeletal dysplasia, differential diagnosis
- Skelettdysplasie, rezessiv; Differentialdiagnose
- Skoliose, früh beginnend; Differentialdiagnose
- Small stature, differential diagnosis
- Smith-Lemli-Opitz syndrome
- Smith-Lemli-Opitz syndrome, differential diagnosis
- Snyder-Robinson syndrome, differential diagnosis
- Sotos-Syndrom, Differentialdiagnose
- Spastic ataxias, differential diagnosis
- Spastische Paraplegie, autosomal dominant; Differentialdiagnose
- Spastische Paraplegie, autosomal rezessiv; Differentialdiagnose
- Spastische Paraplegie, infantil; Differentialdiagnose
- Spastische Paraplegie, unkompliziert ("pure"); Differentialdiagnose
- Spastische Paraplegie, X-chromosomal; Differentialdiagnose
- Sphärozytose, hereditäre; Differentialdiagnose
- Spiegelbewegungen, (familiäre) kongenitale; Differentialdiagnose
- Spinale Muskelatrophie Typ 0, I, II, III, IV; Differentialdiagnose
- Spinale Muskelatrophie; SMN1-/SMN2-Gene
- Spinozerebelläre Ataxie, autosomal dominant; Differentialdiagnose
- Spinozerebelläre Ataxie, autosomal rezessiv; Differentialdiagnose
- Spondylocarpotarsale Synostose, Differentialdiagnose
- Spondyloepimetaphyseal dysplasia, differential diagnosis
- Spondyloepiphyseal dysplasia, differential diagnosis
- Squalen synthase deficiency, differential diagnosis
- Stickler syndrome, differential diagnosis I
- Stickler syndrome, differential diagnosis II; enlargement panel
- Stiff-skin syndrome
- Stüve-Wiedemann syndrome
- Sudden cardiac death, differential diagnosis
- Sulfatase deficiency, multiple
- Sulfatase deficiency, multiple; differential diagnosis
- Synspondylism
- Tatton-Brown-Rahman syndrome
- Tay-Sachs disease
- Thalassaemia alpha
- Thalassaemia beta
- Thalassemia alpha + thalassemia beta
- Thanatophoric dysplasia I/II
- Thanatophoric dysplasia, differential diagnosis
- Thorax-Dystrophien, Differentialdiagnose
- Thrombocyte function disturbances/thrombocytopathies
- Thrombozytopenia-Absent radius syndrome, differential diagnosis
- Thrombozytopenien + Thrombozytopathien, hereditäre; Differentialdiagnose
- Thyroid hormone receptor deficiency, differential diagnosis
- Tibial muscular dystrophy, differential diagnosis
- Torsion dystonia, idiopathic
- TRAPS
- Treacher-Collins-Syndrom, Differentialdiagnose
- Tricho-hepato-enteric syndrome, differential diagnosis
- Trimethylaminuria, primary; differential diagnosis
- Triple-A syndrome
- Troyer syndrome, differential diagnosis
- Tuberous sclerosis, differential diagnosis
- Tumor predisposition syndrome, BAP1-dependent
- Tumor-Syndrome des Nervensystems (ZNS + PNS), familiäre; Differentialdiagnose
- Tyrosinaemia type I-III, differential diagnosis
- Überwachstum, segmentales - PIK3CA; Differentialdiagnose
- Ulna-mamma syndrome
- UNC80-Defizienz: Hypotonie-Sprachstörung-kognitive Entwicklungsverzögerung; Differentialdiagnose
- Urea cyle disorders, hyperammonemia; differential diagnosis
- Urofacial syndrome, differential diagnosis
- Usher syndrome type 1
- Usher syndrome type 2
- Usher-Syndrom Typ 1 + 2 + 3, Differentialdiagnose
- Vascular skin disorders
- Vasculopathy, retinal, with cerebral Leukencephalopathy + systemic manifestations
- Vaskulopathie, erblich; Differentialdiagnose
- Vici syndrome, differential diagnosis
- Virus-Resistenz, Differentialdiagnose
- Waardenburg-Shah syndrome
- Waardenburg-Syndrom I-IV, Differentialdiagnose
- Wachstumshormonmangel IV
- WAGR/WAGRO syndrome
- Walker-Warburg syndrome, differential diagnosis
- Warsaw-Breakage syndrome, differential diagnosis
- Weaver syndrome
- Weill-Marchesani syndrome 1-4, differential diagnosis
- White brain matter disorders, childhood onset
- Wiedemann-Steiner-Syndrom, Differentialdiagnose
- Williams-Beuren syndrome, differential diagnosis
- Wilms-Tumor [incl. Suszeptibilität], Differentialdiagnose
- Wiskott-Aldrich syndrome, differential diagnosis
- Wolfram-Syndrom 1 + 2; Differentialdiagnose
- Woolly hair syndrome, isolated; differential diagnosis
- WT1 disorder, DD Wilms tumor predisposition + Steroid-resistant nephrotic syndrome
- WT1 disorder; DD congenital diaphragmatic hernia
- WT1 disorder; DD disorders of testis development + DSD
- Xanthinuria type I + II
- Xeroderma pigmentosum, Trichothiodystrophie/Cockayne-Syndrom; Differentialdiagnose
- Zapfen-Stäbchen-Dystrophie/Makuladystrophie, Differentialdiagnose
- Zitrullinämie Typ I, Differentialdiagnose
- Zystennieren, familiäre; Differentialdiagnose
Notes on the clinical area
Here you will find the disease-related gene panels available for the clinical area specified above.
If you cannot find the disease you are looking for, please use a known synonym in the search (also in English).
Pediatrics
Molecular genetic diagnostics are used to clarify the hereditary causes of childhood and adolescent diseases. The aim here is to identify deviations from the reference genome ("wild type") and then, if necessary, to distinguish between neutral variants and pathogenic mutations that are important for the physiological development and undisturbed functioning of the child's organism. The inheritance patterns of such diseases are the basis of genetic counselling for parents, persons at risk and affected families. In the last 30 years, several thousand genes have been characterised which cause rare diseases or contribute to the development of these diseases. Current research results have a direct impact on the diagnostic procedure in the laboratory and in genetic counselling. For example, mutations in independent mitochondrial and nuclear genes on different chromosomes can cause clinically indistinguishable forms of mitochondriopathies ("locus heterogeneity"). On the one hand, different mutations in one and the same gene MPZ (myelin protein zero) lead to 3-4 clinically severable forms of hereditary motor and sensory neuropathies (axonal, demyelinating, intermediate HMSN) and, on the other hand, to the severe Déjérine-Sottas syndrome ("allelic heterogeneity").
Formal genetics and etiology
Formal genetically and etiologically, the following groups of neuropaediatric diseases can be distinguished:
- monogenic diseases (autosomal or X-chromosomal inheritance)
- digenic hereditary diseases, which only manifest themselves when mutations are simultaneously in heterozygous state in two different genes. The two normal gene products together form functional heterodimers. Digenic inheritance affects 3% of hereditary diseases in addition to the classic autosomal and X-linked diseases.
- mitochondrial diseases (maternal or autosomal inheritance)
- multifactorial diseases (interaction of several to many genes plus environmental factors)
Congenital malformations
Congenital malformations often appear sporadically - is there a genetic (co-)cause? Several thousand inherited disorders are demonstrably based on genetic changes and lead to disorders in the proteins that build up the child's organism and are essential for its further development. DNA diagnostics therefore often involves a step-by-step procedure in which the most frequent mutations are first tested before the very rare genetic causes are also identified in parallel approaches using extensive and cost-intensive panel procedures. Mutations found or all variants with unclear significance (VUS) are verified by DNA sequence analysis using the Sanger technique.
Child and adolescent medicine comprises at least two thirds of all monogenic diseases. Therefore, only a few of the more frequent disease groups are listed below as examples. Relevant additional information can therefore be found in other medical disciplines such as internal medicine/cardiology, ophthalmology, dermatology, ENT, orthopaedics, urology etc.
Developmental disorders
A conspicuous newborn screening can usually be classified diagnostically by means of single gene analysis according to the metabolite profile or the endocrinological findings. In neuropaediatrics, in the majority of diseases, one or more genetic factors are involved in the causal pathogenesis of the developmental disorder. Often numerical and structural chromosomal defects are detectable as well as genetic mutations that cause monogenic syndromes (e.g. the relatively common Fragile X syndrome). Submicroscopic DNA duplications (e.g. PMP22 gene duplication leads to HMSN1A) or deletions as in velocardiofacial or Williams-Beuren syndrome are clarified with array or MLPA diagnostics. Diagnostic gene panels for more complex developmental disorders such as congenital malformations of the skeleton, organs or dysmorphia comprise up to several hundred genes, which are sequenced in parallel. Initially, only those genes that appear usually related with the clinical picture are analysed. The individual gene panels can be used separately or in combination for diagnostic purposes.
Neuromuscular diseases
Neuromuscular diseases affect the muscles, the anterior horn cells of the spinal cord or the motor end plates and lead to the primary symptom of muscle weakness. The differential diagnosis of neuromuscular diseases requires not only a thorough clinical examination in the muscle centre but also a detailed family tree, electrophysiology and muscle biopsy with specialised (immune) histology. In many cases, however, only molecular genetic analysis allows the exact diagnosis to be determined. Examples of neuromuscular diseases are dystrophinopathies (Duchenne / Becker disease), numerous forms of limb girdle muscular dystrophies, myotonic dystrophies, muscle atrophies (spinal muscular atrophy, SMA) and spinobulbar muscular atrophy (Kennedy type; SBMA). For the abovementioned and many other diseases of this type, the heredity patterns are precisely known, and the genetic defects are directly detectable. If the clinical diagnosis remains less specific, several gene panels are available depending on the disease group.
Mitochondrial diseases
Mutations in the mitochondrial DNA (mtDNA) are special - they are only inherited maternally. And in a given cell, different mtDNA copies can be present with and without mutations (heteroplasmia). Only when a certain threshold value of these functional cell organelles is reached and a high proportion of mutated mtDNA is present, does the loss of mitochondrial function and the disease symptoms manifest. Mitochondrial clinical pictures are often particularly demanding in terms of differential diagnosis and will therefore often have to be classified with more expanded gene panels.
Primary immunodeficiencies
Primary immunodeficiency diseases (PIDD) are not so rare (1/1 200 to 1/2 000; however, they are caused by mutations in more than 300 genes. PIDD can occur syndromally, be characterised by antibody deficiency, autoimmunity or autoinflammation, be generally variable ("common variable ID"), combined (SCID) or lymphoproliferative, or can also affect innate immunity or certain cell types (neutrophil granulocytes, "natural killer" cells). Many of the monogenic primary immunodeficiencies defined so far show variable expressivity (severity of symptoms) and penetrance (penetrating power of the mutation). Patients with one and the same mutation can exhibit very different symptoms; similar clinical symptoms may be due to mutations in different genes. Meaningful interpretation of genetic data can usually only be achieved by considering the clinical picture in the context of the immunological findings and the relevant literature. Advantages of genetic diagnostics include the unambiguous identification of patients, better prognostic assessment and special therapy planning (pharmacotherapy, stem cell transplantation, gene therapy).
Intellectual deficit, mental retardation
- Intelligence impairment
- Mental disability These four terms are used almost synonymously here, although one or other term has sometimes been attributed a lack of political correctness. Mental retardation (MR) is usually defined as a substantial reduction in cognitive and adaptive abilities, starting in early childhood and having an IQ below 70, with a prevalence of up to 2% for milder forms and up to 0.5% for IQs below 50. In addition to chromosomal disorders such as Down syndrome, especially submicroscopic deletions and duplications have been known for a long time as causes for intellectual deficits. It is estimated that mutations in 1000-2000 different genes can lead to autosomal dominant inherited mental retardation (ADMR), more than 400 genes have been identified so far, possibly most of the ADMR genes already. For X-linked MR >150 genes are defined. Autosomal recessive MR (ARMR) could be caused by mutations in >3000 genes. A recent study concluded that the MR risk for offspring of cousin-cousin pairs is up to 4.25 times higher. As a result, the corresponding gene panels are very large and can be subdivided according to numerous accompanying symptoms.