SE-ATLAS

Waardenburg syndrome type 2 Waardenburg syndrome type 3 Renal hypoplasia Gerstmann-Straussler-Scheinker syndrome Werner syndrome Trichothiodystrophy Williams syndrome Genitopatellar syndrome Lujan-Fryns syndrome Friedreich ataxia Cleft hard palate Rett syndrome Hypnic headache Non-syndromic posterior hypospadias Lissencephaly syndrome, Norman-Roberts type Hemimegalencephaly Coffin-Siris syndrome COFS syndrome 46,XY complete gonadal dysgenesis Brachydactyly type A2 BOR syndrome Partington syndrome Genetic intestinal polyposis Tietz syndrome Polymicrogyria Bilateral polymicrogyria Inherited human prion disease Li-Fraumeni syndrome Sarcoidosis Oculocerebrofacial syndrome, Kaufman type Unilateral polymicrogyria Schizencephaly Scleroderma Diffuse cutaneous systemic sclerosis Unilateral focal polymicrogyria Miller-Dieker syndrome Pediatric hepatocellular carcinoma Scalp-ear-nipple syndrome Borjeson-Forssman-Lehmann syndrome Microlissencephaly Limited cutaneous systemic sclerosis Variant ABeta2M amyloidosis Limited systemic sclerosis CREST syndrome Peripheral resistance to thyroid hormones Localized scleroderma Blepharophimosis-intellectual disability syndrome, Ohdo type Smith-Magenis syndrome Bilateral perisylvian polymicrogyria Campomelic dysplasia Unilateral hemispheric polymicrogyria Bilateral frontoparietal polymicrogyria 46,XY partial gonadal dysgenesis Wolf-Hirschhorn syndrome Lynch syndrome Monosomy 5p Transient congenital hypothyroidism due to maternal factor Fryns syndrome Transient congenital hypothyroidism due to neonatal factor Myotonic dystrophy Permanent congenital hypothyroidism Deletion 22q11 Hypothyreose, kongenitale primäre Pendred-Syndrom Katarakt-Intelligenzminderung-Hypogonadismus-Syndrom Hypothyreose, kongenitale zentrale ATTR-Amyloidose, hereditäre Waardenburg-Syndrom Hypothyreose, kongenitale Hypothyreose, periphere Epilepsie, myoklonische progressive, Typ 1 Polymikrogyrie, bilaterale parasagittale parieto-okzipitale Polymikrogyrie, bilaterale generalisierte West-Syndrom Polymikrogyrie, bilaterale frontale Hypothyreose, kongenitale, durch heterozygote THOX2-Genmutationen Blepharophimose-Intelligenzminderung-Syndrom Typ SBBYS Angelman-Syndrom durch paternale UPD 15 Angelman-Syndrom durch maternale Deletion 15q11q13 Hypothyreose, kongenitale transiente Mikro-Syndrom Insomnie, familiäre fatale Hutchinson-Gilford-Syndrom Kolobom der Chorioidea und Retina Kolobom des Auges Iriskolobom Linsenkolobom Lidkolobom Cornelia de Lange-Syndrom AL-Amyloidose Makulakolobom ABeta2M-Amyloidose, Wild-Typ Toriello-Carey-Syndrom Papillenkolobom AA-Amyloidose Alzheimer-Krankheit mit frühem Beginn, autosomal-dominante Agel-Amyloidose ATTRV30M-Amyloidose Creutzfeldt-Jakob-Krankheit, sporadische Uvula bifida Hereditäre Amyloidose mit vorwiegender Nierenbeteiligung Amyloidose Branchio-okulo-faziales Syndrom Hypothyreose, syndromale Van-der-Woude-Syndrom Limb-Mammary-Syndrom Velumspalte Wildtyp-ATTR-Amyloidose Waardenburg-Syndrom Typ 1