SE-ATLAS

Abêtalipoprotéinémie Dystrophie myotonique de Steinert à début juvénile Dystrophie myotonique de Steinert de l'adulte Syndrome oculo-cérébro-rénal de Lowe Hypoparathyroïdie isolée familiale par défaut de sécrétion de la PTH Syndrome de paraparésie spastique-cataracte-retard de langage Syndrome d'ataxie spinocérébelleuse-dystrophie cornéenne Syndrome de rétinite pigmentaire-déficience intellectuelle-surdité-hypogonadisme Maladie musculo-squelettique avec cataracte Homocystinurie par déficit en cystathionine bêta-synthase Atrophie gyrée choriorétinienne Incontinentia pigmenti Syndrome de Marinesco-Sjögren Syndrome de Marshall Syndrome de Meckel Syndrome de délétion 21q Déficit multiple en sulfatases Lipidose avec surcharge en triglycérides et ichtyose Maladie de Norrie Trisomie 21 Syndrome de Turner Syndrome WAGR Syndrome de Werner Xeroderma pigmentosum Monosomie X Syndrome d'Alport lié à l'X-léiomyomatose diffuse Syndrome d'aneuploïdie en mosaïque Aniridie isolée Syndrome de cataracte-déficience intellectuelle-hypogonadisme Galactosémie classique Maladie de Sanfilippo type A Maladie de Sanfilippo type B Maladie de Sanfilippo type D Déficit en alpha-N-acétyl-galactosaminidase type 3 ALG8-CDG Acidurie 3-méthylglutaconique type 4 Pseudopseudohypoparathyroïdie Pseudohypoparathyroïdie type 1C Syndrome DOORS Duplication non distale 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 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 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