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-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 Schwerhörigkeit-Onychodystrophie-Syndrom, autosomal-dominantes Zerebello-parenchymale Krankheit, autosomal-rezessive, Typ 3 Katarakt, suturale, früh-beginnende Katarakt, pulverförmige Katarakt, zölinblaue Katarakt, anteriore polare, früh-beginnende Katarakt, nukleäre, früh-beginnende Foveahypoplasie - präsenile Katarakt Crouzon-Syndrom Distale Triplikation 15q 15q-Großwuchs-Syndrom Katarakt, kongenitale - Mikrokornea - Hornhauttrübung Osteoporose-Pseudoglioma-Syndrom Blau-Syndrom Tetraamelie - Multiple Fehlbildungen Ichthyose-Intelligenzminderung-Kleinwuchs-Niereninsuffizienz-Syndrom Lymphödem - Distichiasis Duplikation 9p partial Tetrasomie 5p Galaktose-Epimerase-Mangel, generalisierter PYCR1-assoziiertes De Barsy-Syndrom Syndrom der Beinverlust-Deformität mit Katarakt Wolf-Hirschhorn-Syndrom Cri-du-chat-Syndrom Intelligenzminderung, X-chromosomale, Typ Armfield Kongenitale Katarakt-Schwerhörigkeit-Entwicklungsverzögerung-Syndrom 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 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 Monosomy 13q14 Distal deletion 13q Autosomal dominant spastic paraplegia type 9A Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract Deafness-intellectual disability syndrome, Martin-Probst type Cataract-intellectual disability-anal atresia-urinary defects syndrome X-linked dominant chondrodysplasia punctata Persistent hyperplastic primary vitreous Cataract-deafness-hypogonadism syndrome Spastic ataxia-corneal dystrophy syndrome Abetalipoproteinemia Oculocerebrorenal syndrome of Lowe Rhizomelic chondrodysplasia punctata type 1 Mosaic variegated aneuploidy syndrome Mevalonic aciduria Stickler syndrome type 2 Alpha-mannosidosis, infantile form Chromosomal anomaly with cataract Cerebral disease with cataract