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 Homocystinuria due to cystathionine beta-synthase deficiency Gyrate atrophy of choroid and retina Incontinentia pigmenti Marinesco-Sjögren syndrome Marshall syndrome Meckel syndrome 21q deletion syndrome Multiple sulfatase deficiency Neutral lipid storage disease with ichthyosis Norrie disease Down syndrome Turner syndrome WAGR syndrome Werner syndrome Xeroderma pigmentosum Monosomy X X-linked Alport syndrome-diffuse leiomyomatosis Mosaic variegated aneuploidy syndrome Isolated aniridia Cataract-intellectual disability-hypogonadism syndrome Classic galactosemia Sanfilippo syndrome type A Sanfilippo syndrome type B Sanfilippo syndrome type D Alpha-N-acetylgalactosaminidase deficiency type 3 ALG8-CDG 3-methylglutaconic aciduria type 4 Pseudopseudohypoparathyroidism Pseudohypoparathyroidism type 1C DOORS syndrome Non-distal duplication 10q Distal duplication 10q Juvenile cataract-microcornea-renal glucosuria syndrome Alpha-mannosidosis, adult form Hallermann-Streiff syndrome Harrod syndrome Upper limb defect-eye and ear abnormalities syndrome Micro syndrome Microcephaly-microcornea syndrome, Seemanova type Rhizomelic chondrodysplasia punctata type 1 Rhizomelic chondrodysplasia punctata type 2 Microcephalic primordial dwarfism, Toriello type Nathalie syndrome Cyprus facial-neuromusculoskeletal syndrome Oculodentodigital dysplasia Oculofaciocardiodental syndrome Oculocerebral hypopigmentation syndrome, Cross type Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome De Barsy syndrome Proteus-like syndrome Roberts syndrome Alpha-N-acetylgalactosaminidase deficiency Cloverleaf skull-multiple congenital anomalies syndrome Siegler-Brewer-Carey syndrome Early-onset lamellar cataract Microcephaly-brachydactyly-kyphoscoliosis syndrome Cataract-congenital heart disease-neural tube defect syndrome Oculoskeletodental syndrome Congenital-onset Steinert myotonic dystrophy Mevalonic aciduria Alpha-mannosidosis Alport syndrome Aniridia X-linked intellectual disability, Najm type Muscle-eye-brain disease 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 Erythrokeratodermia variabilis Rhizomelic chondrodysplasia punctata type 3 Triploidy X-linked Alport syndrome Trisomy 18 Autosomal recessive Stickler syndrome Deafness-intellectual disability syndrome, Martin-Probst type Autosomal recessive cerebelloparenchymal disorder 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 Syndrome de cataracte-insuffisance somatotrope-neuropathie sensorielle-surdité neurosensorielle-dysplasie squelettique Syndrome du cuir chevelu-oreilles-mamelons Syndrome de Flynn-Aird Dysplasie mandibulo-acrale Dystrophie myotonique de Steinert à début tardif Dystrophie myotonique de Steinert, forme infantile Dysplasie ectodermique hidrotique Dystrophie myotonique de Steinert Cataracte syndromique Maladie rénale avec cataracte Syndrome de Stickler type 2 Mucopolysaccharidose type 3 Polychondrite atrophiante Syndrome de microcéphalie-cataracte congénitale-dermatite psoriasiforme Syndrome de cataracte-microcornée Cataracte non syndromique précoce Syndrome de cataracte-déficience intellectuelle-atrésie anale-uropathie Persistance du vitré primitif Syndrome de cataracte-surdité-hypogonadisme Syndrome d'aplasie du cervelet-hydrocéphalie Syndrome de Dahlberg-Borer-Newcomer Syndrome de Basel-Vanagaite-Smirin-Yosef Dysplasie épiphysaire multiple type Beighton Chondrodysplasie ponctuée dominante liée à l'X Pseudohypoparathyroïdie avec ostéodystrophie héréditaire d'Albright Syndrome d'hypogonadisme hypergonadotrope-cataracte Syndrome d'hypomyélinisation-cataracte congénitale Trisomie 13 Maladie de Vogt-Koyanagi-Harada