SE-ATLAS

Katarakt-Glaukom-Syndrom Katarakt, koralliforme Katarakt, totale, früh-beginnende Alpha-Mannosidose, adulte Form Marinesco-Sjögren-Syndrom Marshall-Syndrom Meckel-Syndrom Hallermann-Streiff-Syndrom Alpha-Mannosidose Hallermann-Streiff-ähnliches Syndrom 21q-Deletionssyndrom Alport-Syndrom Alström-Syndrom Alpha-N-Acetylgalactosaminidase-Mangel Amaurosis congenita Leber Harrod-Syndrom Sulfatase-Mangel, multipler Muskel-Augen-Gehirn-Krankheit Aniridie Kleeblattschädel - multiple kongenitale Anomalien Kleinwuchs, mikrozephaler primordialer, Typ Toriello Pseudopseudohypoparathyreoidismus Trichothiodystrophie Pseudohypoparathyreoidismus Typ 1C Apert-Syndrom Neutrale Lipidspeicherkrankheit mit Ichthyose Myopathie, myotone proximale Siegler-Brewer-Carey-Syndrom Intelligenzminderung, X-chromosomale, Typ Najm Infantile Krampfanfälle - breite Daumen Nathalie-Syndrom 3-Methylglutaconazidurie Typ 7 Katarakt, lamelläre, früh-beginnende Fazio-neuro-muskulo-skelettales Syndrom, zyprischer Typ DOORS-Syndrom Dysplasie, okulo-dento-digitale Okulo-fazio-kardio-dentales Syndrom Okulo-palato-zerebrales Syndrom Nicht-distale Duplikation 10q Okulozerebrales Hypopigmentierungs-Syndrom Typ Cross Schwerhörigkeit-Onychodystrophie-Syndrom Okulozerebrales Hypopigmentierungs-Syndrom Typ Preus Kochleosakkuläre Degeneration - Katarakt Hereditäre Hyperferritinämie-Katarakt-Syndrom Augendefekte - Arachnodaktylie - Kardiopathie Katarakt, posteriore polare, früh-beginnende Chondrodysplasia punctata, rhizomeler Typ Katarakt, partielle, früh-beginnende Katarakt, zonuläre, früh-beginnende Dysplasie, mikrozephale osteodysplastische, Typ Saul-Wilson MRCS-Syndrom Hypoparathyreoidismus, familiärer isolierter Hypoparathyreoidismus, familiärer isolierter, bei Agenesie der Nebenschilddrüsen Parkes-Weber-Syndrom Peters plus-Syndrom Klippel-Trénaunay-Syndrom Hyposmie-nasale und okuläre Hypoplasie-hypogonadotroper Hypogonadismus-Syndrom Spondylo-okuläres Syndrom Bakrania-Ragge-Syndrom Trisomie 5p Osteogenesis imperfecta - Mikrozephalie - Katarakte Kongenitale Katarakt-schwere neonatale Hepatopathie-allgemeine Entwicklungsverzögerung-Syndrom Chondrodysplasia punctata, rhizomele, Typ 5 Tricho-retino-dento-digitales Syndrom Aymé-Gripp-Syndrom Galaktose-Epimerase-Mangel der Erythrozyten Chondrodysplasie Typ Blomstrand Familiäre progressive Netzhautdystrophie-Iriskolobom-kongenitale Katarakt-Syndrom Entwicklungsdefekte-Schwerhörigkeit-Dystonie-Syndrom Refsum-Krankheit Retinoschisis, X-chromosomale Schwartz-Jampel-Syndrom Dysplasie, mukoepitheliale hereditäre Smith-Lemli-Opitz-Syndrom Sotos-Syndrom Stickler-Syndrom Distale Duplikation 2p Kongenitale Muskeldystrophie-infantile Katarakt-Hyogonadismus-Syndrom Muskuloskelettale Krankheit mit Katarakt Ectopia lentis-chorioretinale Dystrophie-Myopie-Syndrom Mikroduplikationssyndrom 3q26 Down-Syndrom Letale linksventrikuläre Noncompaction-Kardiomyopathie-Krämpfe-Hypotonie-Katarakt-Entwicklungsverzögerung-Syndrom Distale Duplikation 10q Mikrozephalie - Brachydaktylie - Kyphoskoliose Katarakt-Intelligenzminderung-Hypogonadismus-Syndrom Turner-Syndrom WAGR-Syndrom Werner-Syndrom Galaktosämie, klassische Homocystinurie, klassische Xeroderma pigmentosum De Barsy-Syndrom Proteus-ähnliches Syndrom Monosomie X Atrophia gyrata der Chorioidea und Retina Sanfilippo-Krankheit Typ A Sanfilippo-Krankheit Typ B Sanfilippo-Krankheit Typ D Alpha-N-Acetylgalactosaminidase-Mangel Typ 3 Fehlbildungen der oberen Gliedmaßen - Augen- und Ohranomalien Okuloskeletodentales Syndrom Mikro-Syndrom Incontinentia pigmenti ALG8-CDG Mikrozephalie-Mikrokornea-Syndrom, Typ Seemanova 3-Methylglutaconazidurie Typ 4 Juvenile Katarakt-Mikrokornea-renale Glukosurie-Syndrom Myotone Dystrophie Steinert, kongenitale Form X-chromosomales Alport-Syndrom mit diffuser Leiomyomatose Stickler-Syndrom Typ 1 Aniridie-Intelligenzminderung-Syndrom Adrenoleukodystrophie, neonatale Form Chondrodysplasia punctata, rhizomele, Typ 3 Monosomie 18p Galaktose-Mutarotase-Mangel Monosomie 18q Mikrodeletionssyndrom 2q24 Pseudohypoparathyreoidismus Typ 1A Turner-Syndrom durch strukturelle Anomalien des X-Chromosoms Früh beginnende posteriore subkapsuläre Katarakt Stickler-Syndrom, autosomal-rezessives Autosomal dominant deafness-onychodystrophy syndrome Autosomal recessive cerebelloparenchymal disorder type 3 Early-onset sutural cataract Pulverulent cataract Cerulean cataract Early-onset anterior polar cataract Early-onset nuclear cataract Foveal hypoplasia-presenile cataract syndrome Crouzon syndrome Distal triplication 15q 15q overgrowth syndrome Congenital cataract microcornea with corneal opacity Osteoporosis-pseudoglioma syndrome Blau syndrome Tetraamelia-multiple malformations syndrome Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome Lymphedema-distichiasis syndrome Trisomy 9p Tetrasomy 5p Generalized galactose epimerase deficiency PYCR1-related De Barsy syndrome Absence deformity of leg-cataract syndrome Wolf-Hirschhorn syndrome Monosomy 5p X-linked intellectual disability, Armfield type Congenital cataract-hearing loss-severe developmental delay syndrome Congenital rubella syndrome Congenital varicella syndrome Angioosteohypertrophic syndrome Congenital cataracts-facial dysmorphism-neuropathy syndrome Triploidy Trisomy 18 Epidermal nevus syndrome Erythrokeratodermia variabilis Cardiomyopathy-cataract-hip spine disease syndrome Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Metabolic disease with cataract Autosomal recessive Alport syndrome Intellectual disability-cataracts-kyphosis syndrome Cardiac disease with cataract Autosomal recessive palmoplantar keratoderma and congenital alopecia Autosomal dominant Alport syndrome Dentocutaneous disease with cataract Cataract-ataxia-deafness syndrome Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Rothmund-Thomson syndrome type 2 Craniofacial anomaly with cataract Rothmund-Thomson syndrome Cataract-aberrant oral frenula-growth delay syndrome Cataract-hypertrichosis-intellectual disability syndrome Galactosemia Cataract-nephropathy-encephalopathy syndrome Autoimmune polyendocrinopathy type 1 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Microspherophakia-metaphyseal dysplasia syndrome Syndromic cataract Childhood-onset Steinert myotonic dystrophy Mucopolysaccharidosis type 3 Multiple epiphyseal dysplasia, Beighton type Hypomyelination-congenital cataract syndrome Hidrotic ectodermal dysplasia Relapsing polychondritis Microcephaly-congenital cataract-psoriasiform dermatitis syndrome Steinert myotonic dystrophy Trisomy 13 Renal disease with cataract Cataract-microcornea syndrome Early-onset non-syndromic cataract Hypergonadotropic hypogonadism-cataract syndrome Vogt-Koyanagi-Harada disease Hydrocephaly-cerebellar agenesis syndrome Galactokinase deficiency Galactose epimerase deficiency Cerebrotendinous xanthomatosis Zellweger syndrome Mandibuloacral dysplasia Mosaic monosomy X Fatty acyl-CoA reductase 1 deficiency Sanfilippo syndrome type C Monosomy 13q34 Autosomal dominant hypocalcemia CODAS syndrome COFS syndrome Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome Adams-Oliver syndrome Vici syndrome ALG2-CDG Lathosterolosis Scalp-ear-nipple syndrome Flynn-Aird syndrome Late-onset Steinert myotonic dystrophy Juvenile-onset Steinert myotonic dystrophy Nance-Horan syndrome Cataract-congenital heart disease-neural tube defect syndrome Craniolenticulosutural dysplasia Norrie disease Congenital muscular dystrophy, Fukuyama type ALDH18A1-related De Barsy syndrome Systemic disease with cataract Rothmund-Thomson syndrome type 1 X-linked Alport syndrome Basel-Vanagaite-Smirin-Yosef syndrome Pseudohypoparathyroidism with Albright hereditary osteodystrophy Spastic paraparesis-cataracts-speech delay syndrome Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome Adult-onset Steinert myotonic dystrophy Familial isolated hypoparathyroidism due to impaired PTH secretion Dahlberg-Borer-Newcomer syndrome Roberts syndrome Rhizomelic chondrodysplasia punctata type 2 Isolated aniridia Monosomie 13q14 Délétion distale 13q Paraplégie spastique autosomique dominante type 9A Trouble neurologique du développement sévère avec troubles de l'alimentation-mouvements stéréotypés des mains-cataracte bilatérale Syndrome de surdité-déficience intellectuelle type Martin-Probst Syndrome de cataracte-déficience intellectuelle-atrésie anale-uropathie Chondrodysplasie ponctuée dominante liée à l'X Persistance du vitré primitif Syndrome de cataracte-surdité-hypogonadisme Syndrome d'ataxie spinocérébelleuse-dystrophie cornéenne Abêtalipoprotéinémie Syndrome oculo-cérébro-rénal de Lowe Chondrodysplasie ponctuée rhizomélique type 1 Syndrome d'aneuploïdie en mosaïque Acidurie mévalonique Syndrome de Stickler type 2 Alpha-mannosidose infantile Anomalie chromosomique avec cataracte Maladie cérébrale avec cataracte