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 Duplication distale 10q Syndrome de cataracte juvénile-microcornée-glucosurie rénale Alpha-mannosidose de l'adulte Syndrome de Hallermann-Streiff Syndrome de Harrod Anomalies du membre supérieur, de l'oeil et de l'oreille Syndrome micro Microcéphalie-microcornée type Seemanova Chondrodysplasie ponctuée rhizomélique type 1 Chondrodysplasie ponctuée rhizomélique type 2 Nanisme microcéphalique primordial type Toriello Syndrome de Nathalie Syndrome neuro-musculo-squelettique type chypriote Dysplasie oculo-dento-digitale Syndrome oculo-facio-cardio-dentaire Syndrome oculo-cérébral d'hypopigmentation, type Cross Syndrome létal de non-compaction ventriculaire gauche-convulsions-hypotonie-cataracte-retard de développement Syndrome de De Barsy Syndrome Proteus-like Syndrome de Roberts Déficit en alpha-N-acétylgalactosaminidase Syndrome de crâne en trèfle-anomalies congénitales multiples Syndrome de Siegler-Brewer-Carey Cataracte lamellaire précoce Syndrome de microcéphalie-brachydactylie-déficience intellectuelle Syndrome de cataracte-cardiopathie congénitale-défaut de fermeture du tube neural Syndrome oculo-squeletto-dentaire Dystrophie myotonique de Steinert, forme congénitale Acidurie mévalonique Alpha-mannosidose Syndrome d'Alport Aniridie Déficience intellectuelle liée à l'X type Najm Syndrome muscle-oeil-cerveau Syndrome de Hallermann-Streiff-like Syndrome d'Alström Syndrome MRCS Acidurie 3-méthylglutaconique type 7 Trisomie 5p Chondrodysplasie ponctuée rhizomélique type 5 Hypoparathyroïdie isolée familiale Chondrodysplasie létale de Blomstrand Syndrome de cataracte congénitale-hépatopathie néonatale sévère-retard global de développement Dysplasie mucoépithéliale héréditaire 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 Autosomal recessive Alport syndrome Autosomal dominant spastic paraplegia type 9A Fabry disease Pseudohypoparathyroidism type 1A Autosomal dominant Alport syndrome Systemic disease with cataract Congenital cataract-hearing loss-severe developmental delay syndrome Rothmund-Thomson syndrome Rothmund-Thomson syndrome type 1 Early-onset posterior subcapsular cataract Chromosomal anomaly with cataract Cerebral disease with cataract Intellectual disability-cataracts-kyphosis syndrome Rothmund-Thomson syndrome type 2 Metabolic disease with cataract Cardiac disease with cataract Craniolenticulosutural dysplasia Dentocutaneous disease with cataract Autosomal dominant deafness-onychodystrophy syndrome Craniofacial anomaly with cataract Galactosemia Stickler syndrome type 1 Neonatal adrenoleukodystrophy Nance-Horan syndrome Early-onset sutural cataract Pulverulent cataract Cerulean cataract Early-onset anterior polar cataract Early-onset nuclear cataract Cardiomyopathy-cataract-hip spine disease syndrome Autosomal recessive palmoplantar keratoderma and congenital alopecia Cataract-ataxia-deafness syndrome Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome Cataract-aberrant oral frenula-growth delay syndrome Microspherophakia-metaphyseal dysplasia syndrome Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Autoimmune polyendocrinopathy type 1 Fatty acyl-CoA reductase 1 deficiency Autosomal dominant hypocalcemia Cerebrotendinous xanthomatosis Zellweger syndrome Mosaic monosomy X Adams-Oliver syndrome Lathosterolosis Galactokinase deficiency Galactose epimerase deficiency Sanfilippo syndrome type C CODAS syndrome COFS syndrome Vici syndrome ALG2-CDG Monosomy 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