SE-ATLAS

Abetalipoproteinemia Juvenile-onset Steinert myotonic dystrophy Adult-onset Steinert myotonic dystrophy Oculocerebrorenal syndrome of Lowe Familial isolated hypoparathyroidism due to impaired PTH secretion Spastic paraparesis-cataracts-speech delay syndrome Spastic ataxia-corneal dystrophy syndrome Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome Musculoskeletal disease with cataract Homocystinurie, klassische Atrophia gyrata der Chorioidea und Retina Incontinentia pigmenti Marinesco-Sjögren-Syndrom Marshall-Syndrom Meckel-Syndrom 21q-Deletionssyndrom Sulfatase-Mangel, multipler Neutrale Lipidspeicherkrankheit mit Ichthyose Norrie-Syndrom Down-Syndrom Turner-Syndrom WAGR-Syndrom Werner-Syndrom Xeroderma pigmentosum Monosomie X X-chromosomales Alport-Syndrom mit diffuser Leiomyomatose Variables Aneuploidie-Mosaik-Syndrom Aniridie, isolierte Katarakt-Intelligenzminderung-Hypogonadismus-Syndrom Galaktosämie, klassische Sanfilippo-Krankheit Typ A Sanfilippo-Krankheit Typ B Sanfilippo-Krankheit Typ D Alpha-N-Acetylgalactosaminidase-Mangel Typ 3 ALG8-CDG 3-Methylglutaconazidurie Typ 4 Pseudopseudohypoparathyreoidismus Pseudohypoparathyreoidismus Typ 1C DOORS-Syndrom Nicht-distale Duplikation 10q Distale Duplikation 10q Juvenile Katarakt-Mikrokornea-renale Glukosurie-Syndrom Alpha-Mannosidose, adulte Form Hallermann-Streiff-Syndrom Harrod-Syndrom Fehlbildungen der oberen Gliedmaßen - Augen- und Ohranomalien Mikro-Syndrom Mikrozephalie-Mikrokornea-Syndrom, Typ Seemanova Chondrodysplasia punctata, rhizomele, Typ 1 Chondrodysplasia punctata, rhizomele, Typ 2 Kleinwuchs, mikrozephaler primordialer, Typ Toriello Nathalie-Syndrom Fazio-neuro-muskulo-skelettales Syndrom, zyprischer Typ Dysplasie, okulo-dento-digitale Okulo-fazio-kardio-dentales Syndrom Okulozerebrales Hypopigmentierungs-Syndrom Typ Cross Letale linksventrikuläre Noncompaction-Kardiomyopathie-Krämpfe-Hypotonie-Katarakt-Entwicklungsverzögerung-Syndrom De Barsy-Syndrom Proteus-ähnliches Syndrom Roberts-Syndrom Alpha-N-Acetylgalactosaminidase-Mangel Kleeblattschädel - multiple kongenitale Anomalien Siegler-Brewer-Carey-Syndrom Katarakt, lamelläre, früh-beginnende Mikrozephalie - Brachydaktylie - Kyphoskoliose Katarakt-kongenitale Kardiopathie-Neuralrohrdefekt-Syndrom Okuloskeletodentales Syndrom Myotone Dystrophie Steinert, kongenitale Form Mevalonazidurie Alpha-Mannosidose Alport-Syndrom Aniridie Intelligenzminderung, X-chromosomale, Typ Najm Muskel-Augen-Gehirn-Krankheit Hallermann-Streiff-like syndrome Alström syndrome MRCS syndrome 3-methylglutaconic aciduria type 7 Trisomy 5p Rhizomelic chondrodysplasia punctata type 5 Familial isolated hypoparathyroidism Blomstrand lethal chondrodysplasia Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome Hereditary mucoepithelial dysplasia Leber congenital amaurosis Apert syndrome Trichothiodystrophy Distal duplication 2p Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome Tricho-retino-dento-digital syndrome Proximal myotonic myopathy Cataract-glaucoma syndrome Coralliform cataract Infantile spasms-broad thumbs syndrome Deafness-onychodystrophy syndrome Oculo-palato-cerebral syndrome Aymé-Gripp syndrome Early-onset posterior polar cataract Ectopia lentis-chorioretinal dystrophy-myopia syndrome 3q26 microduplication syndrome Erythrocyte galactose epimerase deficiency Oculocerebral hypopigmentation syndrome, Preus type Cochleosaccular degeneration-cataract syndrome Eye defects-arachnodactyly-cardiopathy syndrome Microcephalic osteodysplastic dysplasia, Saul-Wilson type Hereditary hyperferritinemia-cataract syndrome Rhizomelic chondrodysplasia punctata Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome Early-onset partial cataract Early-onset zonular cataract Total early-onset cataract Peters plus syndrome Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome Refsum disease X-linked retinoschisis Schwartz-Jampel syndrome Parkes Weber syndrome Smith-Lemli-Opitz syndrome Sotos syndrome Spondylo-ocular syndrome Developmental malformations-deafness-dystonia syndrome Familial isolated hypoparathyroidism due to agenesis of parathyroid gland Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome Klippel-Trénaunay syndrome Microphthalmia with brain and digit anomalies Stickler syndrome Foveal hypoplasia-presenile cataract syndrome Distal triplication 15q Crouzon syndrome Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome Alpha-mannosidosis, infantile form Blau syndrome Congenital cataract microcornea with corneal opacity 15q overgrowth syndrome Tetraamelia-multiple malformations syndrome Osteoporosis-pseudoglioma syndrome Generalized galactose epimerase deficiency PYCR1-related De Barsy syndrome Tetrasomy 5p Lymphedema-distichiasis syndrome Absence deformity of leg-cataract syndrome Trisomy 9p Angioosteohypertrophic syndrome Congenital muscular dystrophy, Fukuyama type X-linked intellectual disability, Armfield type Cataract-hypertrichosis-intellectual disability syndrome Cataract-nephropathy-encephalopathy syndrome Monosomy 13q14 Epidermal nevus syndrome Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract Distal deletion 13q Monosomy 18p Aniridia-intellectual disability syndrome ALDH18A1-related De Barsy syndrome Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Monosomy 18q Wolf-Hirschhorn syndrome Monosomy 5p Galactose mutarotase deficiency Congenital rubella syndrome 2q24 microdeletion syndrome Congenital cataracts-facial dysmorphism-neuropathy syndrome Turner syndrome due to structural X chromosome anomalies Congenital varicella syndrome Erythrokératodermie variable Chondrodysplasie ponctuée rhizomélique type 3 Triploïdie Syndrome d'Alport lié à l'X Trisomie 18 Syndrome de Stickler autosomique récessif Syndrome de surdité-déficience intellectuelle type Martin-Probst Ataxie cérébelleuse autosomique récessive type 3 Syndrome d'Alport autosomique récessif Paraplégie spastique autosomique dominante type 9A Maladie de Fabry Pseudohypoparathyroïdie type 1A Syndrome d'Alport autosomique dominant Maladie systémique avec cataracte Syndrome de cataracte congénitale-surdité-retard de développement sévère Syndrome de Rothmund-Thomson Syndrome de Rothmund-Thomson type 1 Cataracte sous capsulaire postérieure précoce Anomalie chromosomique avec cataracte Maladie cérébrale avec cataracte Syndrome de déficience intellectuelle-cataracte-cyphose Syndrome de Rothmund-Thomson type 2 Maladie métabolique avec cataracte Maladie cardiaque avec cataracte Dysplasie cranio-lenticulo-suturale Maladie dento-cutanée avec cataracte Syndrome de surdité-onychodystrophie autosomique dominant Anomalie craniofaciale avec cataracte Galactosémie Syndrome de Stickler type 1 Adrénoleucodystrophie néonatale Syndrome de Nance-Horan Cataracte suturale précoce Cataracte pulvérulente Cataracte céruléenne Cataracte polaire antérieure précoce Cataracte nucléaire précoce Syndrome de cardiomyopathie-cataracte-anomalies spondylo-pelviennes Kératodermie palmoplantaire et alopécie congénitale autosomique récessive Syndrome de cataracte-ataxie-surdité Syndrome de cataracte congénitale-cardiomyopathie hypertrophique-myopathie mitochondriale Syndrome de cataracte-freins buccaux anormaux-retard de croissance Syndrome de microsphérophakie-dysplasie métaphysaire Syndrome de déficience intellectuelle-cataracte-calcification du pavillon auriculaire-myopathie Polyendocrinopathie auto-immune type 1 Déficit en acyl-CoA réductase 1 Hypocalcémie autosomique dominante Xanthomatose cérébrotendineuse Syndrome de Zellweger Monosomie X en mosaïque Syndrome d'Adams-Oliver Lathostérolose Déficit en galactokinase Déficit en galactose épimérase Maladie de Sanfilippo type C Syndrome CODAS Syndrome COFS Syndrome de Vici Syndrome CDG-ALG2 Monosomie 13q34 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome Scalp-ear-nipple syndrome Flynn-Aird syndrome Mandibuloacral dysplasia Late-onset Steinert myotonic dystrophy Childhood-onset Steinert myotonic dystrophy Hidrotic ectodermal dysplasia Steinert myotonic dystrophy Syndromic cataract Renal disease with cataract Stickler syndrome type 2 Mucopolysaccharidosis type 3 Relapsing polychondritis Microcephaly-congenital cataract-psoriasiform dermatitis syndrome Cataract-microcornea syndrome Early-onset non-syndromic cataract Cataract-intellectual disability-anal atresia-urinary defects syndrome Persistent hyperplastic primary vitreous Cataract-deafness-hypogonadism syndrome Hydrocephaly-cerebellar agenesis syndrome Dahlberg-Borer-Newcomer syndrome Basel-Vanagaite-Smirin-Yosef syndrome Multiple epiphyseal dysplasia, Beighton type X-linked dominant chondrodysplasia punctata Pseudohypoparathyroidism with Albright hereditary osteodystrophy Hypergonadotropic hypogonadism-cataract syndrome Hypomyelination-congenital cataract syndrome Trisomy 13 Vogt-Koyanagi-Harada disease