SE-ATLAS

Waardenburg-Syndrom Typ 2 Waardenburg-Syndrom Typ 3 Nierenhypoplasie Gerstmann-Sträussler-Scheinker-Syndrom Werner-Syndrom Trichothiodystrophie Williams-Syndrom Genito-patellares Syndrom Lujan-Fryns-Syndrom Friedreich-Ataxie Spaltbildung des harten Gaumens Rett-Syndrom Kopfschmerz, schlafgebundener Hypospadie, posteriore, nicht-syndromale Lissenzephalie-Syndrom Typ Norman-Roberts Hemimegalenzephalie Coffin-Siris-Syndrom COFS-Syndrom 46,XY-Gonadendysgenesie, vollständige Brachydaktylie Typ A2 BOR-Syndrom Partington-Syndrom Intestinale Polyposis, genetisch bedingte Tietz-Syndrom Polymikrogyrie Polymikrogyrie, bilaterale Prionkrankheit, humane vererbte Li-Fraumeni-Syndrom Sarkoidose Okulo-zerebro-faziales Syndrom, Typ Kaufman Polymikrogyrie, unilaterale Schizenzephalie Sklerodermie Systemische Sklerose, diffuse kutane Polymikrogyrie, fokale unilaterale Miller-Dieker-Syndrom Karzinom, hepatozelluläres, des Kindes Kopfhaut-Ohr-Mamillen-Syndrom Borjeson-Forssman-Lehmann-Syndrom Mikrolissenzephalie Systemische Sklerose, kutane limitierte ABeta2M-Amyloidose, variante Systemische Sklerose, limitierte CREST-Syndrom Hypothyreose durch periphere Resistenz gegen Schilddrüsenhormone Sklerodermie, zirkumskripte Blepharophimose-Intelligenzminderung-Syndrom Typ Ohdo Smith-Magenis-Syndrom Polymikrogyrie, bilaterale perisylvische Dysplasie, kampomele Polymikrogyrie, hemisphärische unilaterale Polymikrogyrie, bilaterale frontoparietale 46,XY-Gonadendysgenesie, partielle Wolf-Hirschhorn-Syndrom Lynch-Syndrom Cri-du-chat-Syndrom Hypothyreose, kongenitale transiente, durch maternalen Faktor Fryns-Syndrom Hypothyreose, kongenitale transiente, durch neonatalen Faktor Myotone Dystrophie Hypothyreose, kongenitale permanente Deletion 22q11 Hypothyreose, kongenitale primäre Pendred syndrome Cataract-intellectual disability-hypogonadism syndrome Central congenital hypothyroidism Hereditary ATTR amyloidosis Waardenburg syndrome Congenital hypothyroidism Peripheral hypothyroidism Progressive myoclonic epilepsy type 1 Bilateral parasagittal parieto-occipital polymicrogyria Bilateral generalized polymicrogyria Infantile spasms syndrome Bilateral frontal polymicrogyria Genetic transient congenital hypothyroidism Blepharophimosis-intellectual disability syndrome, SBBYS type Angelman syndrome due to paternal uniparental disomy of chromosome 15 Angelman syndrome due to maternal 15q11q13 deletion Transient congenital hypothyroidism Micro syndrome Fatal familial insomnia Hutchinson-Gilford progeria syndrome Coloboma of choroid and retina Ocular coloboma Coloboma of iris Coloboma of eye lens Coloboma of eyelid Cornelia de Lange syndrome AL amyloidosis Coloboma of macula Wild type ABeta2M amyloidosis Toriello-Carey syndrome Coloboma of optic disc AA amyloidosis Early-onset autosomal dominant Alzheimer disease AGel amyloidosis ATTRV30M amyloidosis Sporadic Creutzfeldt-Jakob disease Bifid uvula Hereditary amyloidosis with primary renal involvement Amyloidosis Branchio-oculo-facial syndrome Syndromic hypothyroidism Van der Woude syndrome Limb-mammary syndrome Cleft velum Wild type ATTR amyloidosis Waardenburg syndrome type 1