SE-ATLAS

Cataract-glaucoma syndrome Coralliform cataract Total early-onset cataract Alpha-mannosidosis, adult form Marinesco-Sjögren syndrome Marshall syndrome Meckel syndrome Hallermann-Streiff syndrome Alpha-mannosidosis Hallermann-Streiff-like syndrome 21q deletion syndrome Alport syndrome Alström syndrome Alpha-N-acetylgalactosaminidase deficiency Leber congenital amaurosis Harrod syndrome Multiple sulfatase deficiency Muscle-eye-brain disease Aniridia Cloverleaf skull-multiple congenital anomalies syndrome Microcephalic primordial dwarfism, Toriello type Pseudopseudohypoparathyroidism Trichothiodystrophy Pseudohypoparathyroidism type 1C Apert syndrome Neutral lipid storage disease with ichthyosis Proximal myotonic myopathy Siegler-Brewer-Carey syndrome X-linked intellectual disability, Najm type Infantile spasms-broad thumbs syndrome Nathalie syndrome 3-methylglutaconic aciduria type 7 Early-onset lamellar cataract Cyprus facial-neuromusculoskeletal syndrome DOORS syndrome Oculodentodigital dysplasia Oculofaciocardiodental syndrome Oculo-palato-cerebral syndrome Non-distal duplication 10q Oculocerebral hypopigmentation syndrome, Cross type Deafness-onychodystrophy syndrome Oculocerebral hypopigmentation syndrome, Preus type Cochleosaccular degeneration-cataract syndrome Hereditary hyperferritinemia-cataract syndrome Eye defects-arachnodactyly-cardiopathy syndrome Early-onset posterior polar cataract Rhizomelic chondrodysplasia punctata Early-onset partial cataract Early-onset zonular cataract Microcephalic osteodysplastic dysplasia, Saul-Wilson type MRCS syndrome Familial isolated hypoparathyroidism Familial isolated hypoparathyroidism due to agenesis of parathyroid gland Parkes Weber syndrome Peters plus syndrome Klippel-Trénaunay syndrome Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Spondylo-ocular syndrome Microphthalmia with brain and digit anomalies Trisomy 5p Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome Rhizomelic chondrodysplasia punctata type 5 Tricho-retino-dento-digital syndrome Aymé-Gripp syndrome Erythrocyte galactose epimerase deficiency Blomstrand lethal chondrodysplasia Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome Developmental malformations-deafness-dystonia syndrome Refsum disease X-linked retinoschisis Schwartz-Jampel syndrome Hereditary mucoepithelial dysplasia Smith-Lemli-Opitz syndrome Sotos syndrome Stickler syndrome Distal duplication 2p Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome Musculoskeletal disease with cataract Ectopia lentis-chorioretinal dystrophy-myopia syndrome 3q26 microduplication syndrome Down syndrome Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome Distal duplication 10q Microcephaly-brachydactyly-kyphoscoliosis syndrome Cataract-intellectual disability-hypogonadism syndrome Turner syndrome WAGR syndrome Werner syndrome Classic galactosemia Homocystinuria due to cystathionine beta-synthase deficiency Xeroderma pigmentosum De Barsy syndrome Proteus-like syndrome Monosomy X Gyrate atrophy of choroid and retina Sanfilippo syndrome type A Sanfilippo syndrome type B Sanfilippo syndrome type D Alpha-N-acetylgalactosaminidase deficiency type 3 Upper limb defect-eye and ear abnormalities syndrome Oculoskeletodental syndrome Micro syndrome Incontinentia pigmenti ALG8-CDG Microcephaly-microcornea syndrome, Seemanova type 3-methylglutaconic aciduria type 4 Juvenile cataract-microcornea-renal glucosuria syndrome Congenital-onset Steinert myotonic dystrophy X-linked Alport syndrome-diffuse leiomyomatosis Stickler syndrome type 1 Aniridia-intellectual disability syndrome Neonatal adrenoleukodystrophy Rhizomelic chondrodysplasia punctata type 3 Monosomy 18p Galactose mutarotase deficiency Monosomy 18q 2q24 microdeletion syndrome Pseudohypoparathyroidism type 1A Turner syndrome due to structural X chromosome anomalies Early-onset posterior subcapsular cataract Autosomal recessive Stickler syndrome 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 Rötelnembryopathie Varizellen-Syndrom, kongenitales Angio-osteo-hypertrophisches Syndrom Kongenitale Katarakt-Gesichtsdysmorphie-Neuropathie-Syndrom Triploidie Trisomie 18 Syndrom des epidermalen Naevus Erythrokeratodermia variabilis Kardiomyopathie-Katarakt-Hüftwirbelsäulenerkrankung-Syndrom Kongenitale Katarakt-progressive Muskelhypotonie-Hörverlust-Entwicklungsverzögerung-Syndrom Katarakt mit assoziierter Stoffwechselkrankheit Alport-Syndrom, autosomal-rezessives Intelligenzminderung-Katarakte-Kyphose-Syndrom Katarakt mit assoziierter Herzkrankheit Palmoplantarkeratose - kongenitale Alopezie, autosomal-rezessiv Alport-Syndrom, autosomal-dominantes Katarakt mit assoziierter dento-kutaner Krankheit Katarakt - Ataxie - Taubheit Kongenitale Katarakt-hypertrophe Kardiomyopathie-mitochondriale Myopathie-Syndrom Rothmund-Thomson-Syndrom Typ 2 Katarakt mit assoziierter kraniofazialer Anomalie Rothmund-Thomson-Syndrom Katarakt - aberrante orale Frenula - Wachstumsverzögerung Katarakt-Hypertrichose-Intelligenzminderung-Syndrom Galaktosämie Katarakt-Nephropathie-Enzephalopathie-Syndrom Autoimmun-Polyendokrinopathie Typ 1 Intelligenzminderung-Katarakt-kalzifizierte Ohrknorpel-Myopathie-Syndrom Mikrosphärophakie - metaphysäre Dysplasie Katarakt, syndromale Myotone Dystrophie Steinert mit Beginn im Kindesalter Mukopolysaccharidose Typ 3 Dysplasie, epiphysäre multiple, Typ Beighton Hypomyelinisierung - kongenitale Katarakt Dysplasie, ektodermale hidrotische Polychondritis, rezidivierende Mikrozephalie-kongenitale Katarakt-psoriasiforme Dermatose-Syndrom Myotone Dystrophie Steinert Trisomie 13 Katarakt mit assoziierter Nierenkrankheit Katarakt-Mikrokornea-Syndrom Katarakt, nicht-syndromale, kongenitale Hypergonadotroper Hypogonadismus-Katarakt-Syndrom Vogt-Koyanagi-Harada-Krankheit Hydrozephalus-Kleinhirn-Agenesie-Syndrom Galaktokinase-Mangel Galaktose-Epimerase-Mangel Xanthomatose, zerebrotendinöse Zellweger-Syndrom Dysplasie, mandibulo-akrale Monosomie X-Mosaik Fettsäure Acyl-CoA-Reduktase 1-Mangel Sanfilippo-Krankheit Typ C Monosomie 13q34 Hypokalzämie, autosomal-dominante CODAS-Syndrom COFS-Syndrom Katarakt-Wachstumshormonmangel-sensorische Neuropathie-sensorineurale Schwerhörigkeit-Skelettdysplasie-Syndrom Adams-Oliver-Syndrom Vici-Syndrom ALG2-CDG Lathosterolose Kopfhaut-Ohr-Mamillen-Syndrom Flynn-Aird-Syndrom Myotone Dystrophie Steinert mit spätem Beginn Myotone Dystrophie Steinert, juvenile Form Nance-Horan-Syndrom Katarakt-kongenitale Kardiopathie-Neuralrohrdefekt-Syndrom Dysplasie, kranio-lentikulo-suturale Norrie-Syndrom Muskeldystrophie, kongenitale, Typ Fukuyama DeBarsy-Syndrom, ALDH18A1-abhängiges Katarakt mit assoziierter systemischer Krankheit Rothmund-Thomson-Syndrom Typ 1 Alport-Syndrom, X-chromosomales Basel-Vanagaite-Smirin-Yosef-Syndrom Pseudohypothyreoidismus mit Albright'sche hereditäre Osteodystrophie Spastische Paraparese-Katarakte-Sprachverzögerung-Syndrom Retinitis pigmentosa-Intelligenzminderung-Taubheit-Hypogonadismus-Syndrom Myotone Dystrophie Steinert mit Beginn im Erwachsenenalter Hypoparathyreoidismus, isolierter familiärer, durch gestörte PTH-Sekretion Dahlberg-Borer-Newcomer-Syndrom Roberts-Syndrom Chondrodysplasia punctata, rhizomele, Typ 2 Aniridie, isolierte Monosomie 13q14 Distale Deletion 13q Spastische Paraplegie, autosomal-dominante, Typ 9A Schwere neurologische Entwicklungsstörung mit Fütterproblemen-stereotype Handbewegungen-bilateraler Katarakt Schwerhörigkeit-Intelligenzminderung-Syndrom Typ Martin-Probst Katarakt-Intelligenzminderung-Analatresie-Uropathie-Syndrom Chondrodysplasia punctata, X-chromosomal-dominante Persistierender hyperplastischer primärer Vitreus Katarakt-Schwerhörigkeit-Hypogonadismus-Syndrom Spastische Ataxie - Hornhautdystrophie Abetalipoproteinämie Okulo-zerebro-renales Syndrom Lowe Chondrodysplasia punctata, rhizomele, Typ 1 Variables Aneuploidie-Mosaik-Syndrom Mevalonazidurie Stickler-Syndrom Typ 2 Alpha-Mannosidose, infantile Form Katarakt mit assoziierter Chromosomenanomalie Katarakt mit assoziierter zerebraler Krankheit