SE-ATLAS

Dysplasie, fronto-nasale Achondrogenesie Kurzrippen-Polydaktylie-Syndrom Typ Saldino-Noonan Dysplasie, spondyloepiphysäre, Typ Nishimura Herz-Hand-Syndrom Typ 3 X-chromosomal-dominante Intelligenzminderung-Epilepsie-Syndrom Syndaktylie Typ 5 Okulo-zerebro-faziales Syndrom, Typ Kaufman Schinzel-Giedion-Syndrom Spondyloepiphysäre und spondyloepimetaphysäre Dysplasie Ankyloblepharon-ektodermale Defekte-Lippen-Kiefer-Gaumenspalte-Syndrom Dysplasie, spondyloepimetaphysäre, Typ Isidor-Toutain Osteosklerose-Entwicklungsverzögerung-Kraniosynostose-Syndrom HSD10-Krankheit, infantiler Typ Brachydaktylie-Syndaktylie Typ Zhao Allgemeine Entwicklungsverzögerung-Osteopenie-ektodermaler Defekt-Syndrom Oro-fazio-digitales Syndrom Typ 9 Spastische Ataxie - Hornhautdystrophie Kurzrippen-Polydaktylie-Syndrom Typ Verma-Naumoff Holoprosenzephalie, semilobäre Dysplasie, spondylometaphysäre Schwartz-Jampel-Syndrom Schwerhörigkeit-Onychodystrophie-Syndrom, autosomal-dominantes Intelligenzminderung-spastische Paraplegie-Ektrodaktylie-Syndrom Fibromatose, hyaline juvenile Czeizel-Losonci-Syndrom Hyperkalzämie, familiäre hypokalziurische, Typ 2 Filippi-Syndrom Spondyloepiphysäre Dysplasie-Brachydaktylie-Sprachstörung-Syndrom Moynahan-Syndrom Störung der Geschlechtsentwicklung-Intelligenzminderung-Syndrom Mikrodeletionssyndrom 9q31.1q31.3 Albright-Osteodystrophie, hereditäre Thanatophore Dysplasie Typ 2 Fibromatose, multiple nicht ossifizierende ATR-X-abhängiges Syndrom Holoprosenzephalie - postaxiale Polydaktylie Vertikaler Talus, kongenitaler Chondrodysplasia punctata, X-chromosomal-dominante Polymikrogyrie, fokale unilaterale pondylokostale Dysostose-Analatresie-Urogenitalfehlbildung-Syndrom Fibuläre Dimelie-Diplopodie-Syndrom Ruvalcaba-Syndrom Monostotische fibröse Dysplasie Okulo-fazio-kardio-dentales Syndrom Arthrogrypose - Hyperkeratose, letaler Typ Hyperkalzämie, familiäre hypokalziurische, Typ 3 Cenani-Lenz-Syndaktylie DOORS-Syndrom Isolierte Spalthand-Spaltfuß-Fehlbildung Opitz BBB/G-Syndrom, autosomal-dominantes Hypophosphatasie des Erwachsenen Alopezie-Intelligenzminderung-Syndrom Okulo-palato-zerebrales Syndrom Krankheit, genetisch bedingte EEC-Syndrom Oto-palato-digitales Syndrom Mikrodeletionssyndrom 14q24.1q24.3 Osteopetrose-Hypogammaglobulinämie-Syndrom Pterygium colli - Intelligenzminderung - Fingeranomalien Okulo-zerebro-renales Syndrom Lowe IVIC-Syndrom Schultergürtelsyndrom mit Intelligenzminderung, familiärer Typ Dobrow-Syndrom Kraniosynostose - Hydrozephalus - Chiari-Fehlbildung I - radioulnare Synostose Xq28-Duplikationssyndrom, proximales Intelligenzminderung-grobe Gesichtsszüge-Makrozephalie-zerebelläre Hypoplasie-Syndrom Multiples Pterygium-Syndrom, autosomal-rezessives Syndaktylie - Kamptodaktylie und Klinodaktylie des fünften Fingers - bifide Zehen Dysplasie, spondyloepiphysäre, Typ Kimberley Dysplasie, spondyloepiphysäre, Typ Reardon Pyruvat-Dehydrogenase-E3-bindendes Protein-Mangel Knochenkrankheit, seltene Dysplasie, spondyloepimetaphysäre, Typ PAPSS2 Akrozephalosyndaktylie Syndromale neurometabolische Krankheit mit X-chromosomaler Intelligenzminderung Syndrom der Beinverlust-Deformität mit Katarakt Symbrachydakytlie der Hände und Füße, bilateral Dysostose, spondylokostale, autosomal-rezessive Kreatin-Transporter-Mangel, X-chromosomaler SRD5A3-CDG Mohr-Tranebjaerg-Syndrom Reunion Insel-Variante des Larsen-Syndroms Ulbright-Hodes-Syndrom Schwere Intelligenzminderung-Kleinwuchs-Verhaltensstörungen-Gesichtsdysmorphie-Syndrom Intelligenzminderung, X-chromosomale, durch GRIA3-Mutationen Kryohydrozytose mit reduziertem Stomatin, hereditäre Form Ektodermale Dysplasie-Pili-Torti-Syndaktylie-Syndrom Say-Barber-Miller-Syndrom Radio-ulnare Synostose, kongenitale MEDNIK-Syndrom Kraniosynostose, nicht-syndromale Ankylose, glossopalatine Say-Field-Coldwell-Syndrom Multiples Pterygium-Syndrom Epilepsie-Syndrom, infantiles, Amish-Typ Osteopoikilose, isolierte Radioulnare Synostose-Entwicklungsretardierung-Hypotonie-Syndrom Chudley-Lowry-Hoar-Syndrom Intelligenzminderung, X-chromosomale, Typ Najm SCARF-Syndrom Ziliopathie mit vorwiegend skelettaler Beteiligung Baller-Gerold-Syndrom Letal okzipitale Enzephalozele-Skelettdysplasie-Syndrom Holmes-Gang-Syndrom Dysplasie, spondyloepiphysäre, verzögerte, Typ Kohn Upington-Krankheit Muskeldystrophie, kongenitale, Typ Fukuyama Smith-Fineman-Myers-Syndrom Zentrale Polydaktylie der Zehen Hydrozephalus mit Stenose des Aquaeductus Sylvii Herz-Hand-Syndrom Hajdu-Cheney-Syndrom Blepharophimose-Intelligenzminderung-Syndrom Typ Ohdo Carpenter-Waziri-Syndrom Banki-Syndrom Dysplasie, metaphysäre COG1-CDG Ulna-Mamma-Syndrom Dysplasie, spondyloepiphysäre, Typ MacDermot Akro-pektoro-renale Dysplasie Entwicklungsverzögerung-Gesichtsdysmorphien-Syndrom durch MED13L-Mangel Dysplasie, epiphysäre multiple, mit Pseudoachondroplasie Hirn-Lunge-Schilddrüsen-Syndrom Dyskeratosis congenita Osteoarthropathie, hypertrophe primäre Dysplasie, mandibulo-akrale Odontohypophosphatasie Pyknoachondrogenesie Okihiro-Syndrom VACTERL-Assoziation mit Hydrozephalus Renier-Gabreels-Jasper-Syndrom Kleinwuchs Typ Brüssel Leukozytenadhäsionsdefekt Typ II Rachitis, hypokalzämische, Vitamin D-abhängige Polydaktylie, spiegelbildliche - vertebrale Segmentierungsdefekte - Extremitätenanomalien Rachitis, hypokalzämische, Vitamin D-resistente Hereditäre spastische Paraplegie, X-chromosomale, komplexe Achondrogenesie Typ 2 Cole-Carpenter-Syndrom Leukoenzephalopathie mit Hirnstamm- und Rückenmarkbeteiligung - Laktaterhöhung Mandibulo-faziale Dysostose-Mikrozephalie-Syndrom Gesichtsdysmorphie-Schalskrotum-Gelenkschlaffheit-Syndrom Osteopenie-Intelligenzminderung-spährliches Haar-Syndrom Achondrogenesie Typ 1B Van den Ende-Gupta-Syndrom Dysplasie, spondylodysplastische Spastische Paraplegie, komplizierte, X-chromosomale, Typ 1 Syndaktylie, nicht-syndromale Dünne Rippen und Röhrenknochen-Dysmorphie-Syndrom Dysplasie, spondyloepimetaphysäre, Typ Bieganski Bartsocas-Papas-Syndrom Marden-Walker-Syndrom Hyperostosis corticalis generalisata Leukozytenadhäsionsdefekt Typ III Pfeiffer-Palm-Teller-Syndrom Hypochondrogenesie Heterotopie, noduläre periventrikuläre Freeman-Sheldon-Syndrom Shprintzen-Goldberg-Syndrom Schneckenbecken-Dysplasie Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 1 Dysplasie, akromesomele Van den Bosch-Syndrom Hyperparathyroidismus, neonataler primärer schwerer Osteochondritis der Tarsal-/Metatarsalknochen Achondrogenesie Typ 1A Small-Patella-Syndrom Dysosteosklerose Goldblatt-Syndrom Dysplasie, akromele Kleinwuchs, Shox-bedingter Myopathie-Wachstumsverzögerung-Intelligenzminderung-Hypospadie Brachyolmie Typ 2 Pseudarthrose des Femurs, kongenitale Stickler-Syndrom Kampomele Dysplasie und verwandte Krankheiten Intelligenzminderung-Katarakte-Kyphose-Syndrom Agammaglobulinämie-Mikrozephalie-Kraniosynostose-schwere Dermatitis-Syndrom Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 2 Persistierender Ducuts arteriosus-bikuspide Aortenklappe-Handanomalien-Syndrom Arthrogrypose, distale Spastische Tetraplegie-Retinitis pigmentosa-Intelligenzminderung-Syndrom Dysostose, akro-fronto-fazio-nasale Dysplasie, epiphysäre multiple, durch Kollagen 9-Anomalie Mikroduplikationssyndrom Xq28, distal Dysplasie, mesomele und rhizo-mesomele Kongenitale Katarakt-Gesichtsdysmorphie-Neuropathie-Syndrom Tricho-rhino-phalangeales Syndrom Brachyolmie Typ 3 Akroscyphodysplasie, metaphysäre Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 4 Brachyolmie Typ 1, Toledo-Typ Dysostose, akrofaziale, Catania-Typ Fryns-Syndrom Kraniodigitales Syndrom mit Intelligenzminderung Dysplasie, epiphysäre multiple, Typ 4 Dysplasie, akromikrische Kenny-Caffey-Syndrom Radial-renales Syndrom Dysplasie, neonatale osteosklerotische Gefäßknochensyndrom, kongenitales Dysplasie, spondyloepimetaphysäre, Typ Aggrecan Polymikrogyrie mit Sehnerv-Hypoplasie Nestor-Guillermo-Progeroid-Syndrom FGFR2-abhängige Dysplasie mit gekrümmten Knochen Ophthalmoplegie-Intelligenzminderung-Lingua scrotalis-Syndrom Sklerosteose Kniedislokation, kongenitale Dysostose mit Brachydaktylie Temple-Syndrom durch paternale Mikrodeletion 14q32.2 Wirbelfusion, progrediente, nicht-infektiöse syndromale Form McDonough-Syndrom Fehlender Radius-anogenitalen Anomalien-Syndrom Kleinwuchs-Onychodysplasie-Gesichtsdysmorphie-Hypotrichose-Syndrom Chondrodysplasia punctata McCune-Albright-Syndrom Primäre Knochendysplasie mit erhöhter Knochendichte Katarakt-Intelligenzminderung-Analatresie-Uropathie-Syndrom TMEM165-CDG Dysplasie, epiphysäre multiple, Typ 1 AICA-Ribosidurie Isolierter Atmungskettendefekt im Komplex I Teebi-Shaltout-Syndrom Primäre Knochendysplasie mit Knochenmineralisationsdefekt Zechi-Ceide-Syndrom Kleinwuchs, mikrozephaler primordialer Dysplasie, fronto-fazio-nasale Oxyzephalie, isolierte Ramon-Syndrom Katarakt-Schwerhörigkeit-Hypogonadismus-Syndrom Galloway-Mowat-Syndrom HSD10-Krankheit, neonataler Typ Skelettdysplasie mit Wormschen Knochen-multiplen Frakturen-Dentinogenesis imperfecta-Syndrom Hypochondroplasie SLC35A2-CDG Osteogenesis imperfecta Shwachman-Diamond-Syndrom Dysplasie, dyssegmentale, Typ Rolland-Desbuquois Dysplasie, spondyloepimetaphysäre, Typ Czarny-Ratajczak Dysplasie, kraniodiaphysäre Dysplasie, kranio-fronto-nasale Ektrodaktylie-Polydaktylie-Syndrom Hepatische Fibrose - Nierenzysten - Intelligenzminderung Foramina parietalia, vergrößerte Xeroderma pigmentosum/Cockayne-Syndrom-Komplex Primäre Knochendysplasie mit multiplen Gelenkdislokationen Primäre Cutis verticis gyrata, nicht-essentielle Aortenbogen-Anomalie-Gesichtsdysmorphie-Intelligenzminderung-Syndrom Pyruvat-Dehydrogenase E1-alpha-Mangel Cooks-Syndrom Intelligenzminderung - Corpus callosum-Hypoplasie - präaurikuläre Anhängsel Blepharophimose-Intelligenzminderung-Syndrom Phokomelie - Ektrodaktylie - Schwerhörigkeit - Sinusarrhythmie Primäre Knochendysplasie mit erniedrigter Knochendichte Osteolyse, primäre Dysplasie, epiphysäre multiple, Typ Beighton RAPADILINO-Syndrom Mikrodeletionssyndrom 1p21.3 Kranio-fronto-nasale Dysplasie - Poland-Anomalie Anomalien der Fingerstrecksehnen Syndrom mit oro-mandibulärer und Gliedmaßen-Hypogenesis Gemischte sklerosierende Knochendystrophie mit extraskelettalen Manifestationen Dysplasie, kranio-metaphysäre Dysostose, periphere Dysplastische kortikale Hyperostose Typ Kozlowski-Tsuruta SLC39A13-assoziiertes spondylodysplastisches Ehlers-Danlos-Syndrom Dysplasie, spondylometaphysäre, Corner-fracture-Typ MEND-Syndrom Rachitis, hypophosphatämische, autosomal-rezessive Mikrophthalmie Typ Lenz Oro-fazio-digitales Syndrom Typ 1 Kleidokraniale Dysplasie und isolierten kranialen Ossifikationsdefekt Syndrom der kongenitalen letalen Kontrakturen Typ 2 Katarakt-Intelligenzminderung-Hypogonadismus-Syndrom Oro-fazio-digitales Syndrom Typ 2 Primäre Knochendysplasie mit desorganisierter Skelettentwicklung Mikrozephalie - Brachydaktylie - Kyphoskoliose Dysostose, spondylokostale, autosomal-dominante Megalokornea-Intelligenzminderung-Syndrom Kleeblattschädel-Syndrom, isoliertes Dysplasie, spondylometaphysäre, Typ Sedaghatian MMEP-Syndrom Dominante Hypophosphatämie mit Nephrolithiasis oder Osteoporose Kranio-Osteoarthropathie Dysplasie, akro-capito-femorale Oro-fazio-digitales Syndrom Typ 4 Dysostose mit vorwiegend vertebraler und kostaler Beteiligung X-chromosomale Hyperostose der Schädelkalotte Syndrom der kongenitalen letalen Kontrakturen Typ 3 Dysostose mit vorwiegend kraniofazialer Beteiligung Dysplasie, epiphysäre multiple, Typ Lowry Klippel-Feil-Syndrom, isoliertes Temple-Syndrom bei maternaler uniparentaler Disomie von Chromosom 14 Peters plus-Syndrom Kraniosynostose Typ Philadelphia Melhem-Fahl-Syndrom Oro-fazio-digitales Syndrom Typ 8 Omphalozele-Syndrom Typ Shprintzen-Goldberg Sagliker-Syndrom Angelman-Syndrom durch Imprinting-Defekt in 15q11-q13 Kleinwuchs mit Brachydaktylie vom Typ Mseleni Tetraamelie - Multiple Fehlbildungen Stickler-Syndrom, autosomal-rezessives Oro-fazio-digitales Syndrom Typ 12 Dysostose, patellare Pfeiffer-Syndrom Oro-fazio-digitales Syndrom Typ 10 Alpha-Thalassämie-X-chromosomale Intelligenzminderung-Syndrom Blepharophimose - radioulnare Synostose Arthrogryposis-Syndrom Dysostose, akrofaziale, Typ Kennedy-Teebi Genetisch bedingte Dysostose mit Extremitätenanomlie als Hauptmerkmal Hemimelie, radiale Intelligenzminderung, X-chromosomale, syndromale Typ 7 Dysplasie, spondylometaphysäre, autosomal-rezessive, Typ Mégarbané Melnick-Needles-Syndrom Multizentrische Osteolyse-Nodulose-Arthropathie-Spektrum Tibia-Hemimelie Kleefstra-Syndrom Polydaktylie, Syndaktylie und/oder Hyperphalangie, nicht-syndromal Biemond-Syndrom Typ 2 Intelligenzminderung, X-chromosomale, Typ Abidi Dysplasie, zerebro-fazio-thorakale Melorheostose Bipartite Talus Zentrale Polydaktylie der Zehen, bilateral Schulter- und Thoraxmißbildung - kongenitale Kardiopathie X-chromosomale Intelligenzminderung-Epilepsie-Syndrom Gliedmaßen-Reduktionsdefekt, nicht-syndromaler Mikrodeletionssyndrom 17q11 Klumpfuß, familiärer isolierter, durch Mikroduplikationssyndrom 17q23.1-q23.2 Oro-fazio-digitales Syndrom Typ 13 Hypertelorismus - Mikrotie - Gesichtsspalten Fallot-Tetralogie mit Intelligenzminderung und Wachstumsverzögerungen Intelligenzminderung, X-chromosomale, Typ Armfield Pseudoaminopterin-Syndrom Ulna-Hypoplasie-Spaltfuß-Syndrom Syndrome mit Extremitätenfehlbildung als Hauptmerkmal Oropharynx imperforatus - costovertebrale Fehlbildungen Sillence-Syndrom Kenny-Caffey-Syndrom, autosomal-rezessives Gómez-López-Hernández-Syndrom Mikrophthalmie-Ankyloblepharon-Intelligenzminderung-Syndrom Kaudaler Appendix-Taubheit-Syndrom Sirenomelie Hemimelie, fibuläre Postaxiale Polydaktylie der Zehen, unilateral Geroderma osteodysplastica Syndrome mit Synostose oder anderer Gelenkfehlentwicklung Tibia-Hemimelie-Polysyndaktylie-triphalangealer Daumen-Syndrom Kraniosynostose -Fibula--Syndrom Multiples Pterygium-maligne Hyperthermie-Syndrom Extremitätenfehlbildung, nicht-syndromale Intelligenzminderung, X-chromosomale, syndromale, Typ Claes-Jensen Bonneman-Meinecke-Reich-Syndrom Ossifikationsverzögerung des Schädels, membranöse Fehlbildungen der oberen Gliedmaßen - Augen- und Ohranomalien Postaxiale Polydaktylie der Zehen, bilateral Dysplasie, epiphysäre multiple, Typ Al-Gazali Heteroplasie, progressive ossäre Kenny-Caffey-Syndrom, autosomal-dominantes Christianson-Syndrom Polymikrogyrie, bilaterale parasagittale parieto-okzipitale 48,XYYY-Syndrom Brachyolmie-Amelogenesis imperfecta-Syndrom Augenbrauen, verdoppelte - Syndaktylie Seltene Krankheit der Thoraxchirurgie Agnathie-Holoprosenzephalie-Situs inversus-Syndrom Osteokraniostenose Dysostose, genetisch bedingte Omodysplasie, autosomal-dominante Form Rubinstein-Taybi-Syndrom durch EP300-Haploinsuffizienz Frontorhinie RFT1-CDG Pleonosteose Leri Zentrale Polydaktylie der Zehen, unilateral Osteochondrosis dissecans Tatton-Brown-Rahman-Syndrom Weaver-Syndrom Chondrodysplasie, metaphysäre, Typ Schmid Kraniosynostose - Dandy-Walker-Malformation - Hydrozephalus Marfan-Syndrom Typ 1 Verzögerte Sprachentwicklung-Gesichtsasymmetrie-Strabismus-Ohrmuscheldefekte-Syndrom Intelligenzminderung, X-chromosomale, Typ Miles-Carpenter Osteosklerose - Ichthyose - vorzeitige Ovarialinsuffizienz Autosomal-rezessive zerebelläre Ataxie - Epilepsie - Intelligenzminderung Chondrodysplasie, letale Okihiro-Syndrom durch Monosomie 20q13 Knorpel-Haar-Hypoplasie Dysplasie, epiphysäre multiple, mit schwerer proximaler Femur-Dysplasie Thalidomid-Fetopathie Osteochondromatose, karpotarsale MEHMO-Syndrom X-chromosomal-rezessive Intelligenzminderung-Makrozephalie-Ziliendysfunktion-Syndrom Intelligenzminderung, X-chromosomale, Typ Schimke Roifman-Syndrom Jackson-Weiss-Syndrom Mesomeler Kleinwuchs-Gaumenspalte-Kamptodaktylie-Syndrom Intelligenzminderung-Strabismus-Syndrom Weill-Marchesani-Syndrom Polymikrogyrie, bilaterale frontale Dysostose, mandibulofaziale, X-chromosomale Synpolydaktylie Typ 1 Weissenbacher-Zweymüller-Syndrom Kraniosynostose Typ Boston Chondrodysplasia punctata, rhizomele, Typ 1 Kleinwuchs, mesomeler, Typ Langer Intelligenzminderung-Glatzenbildung-Patellaluxation-Akromikrie-Syndrom Thiemann-Krankheit, familiäre Form Sagittalnaht-Synostose, nicht-syndromale Osteodysplasie, familiäre, Typ Anderson BRESEK-Syndrom Polydaktylie, postaxiale, Typ A West-Syndrom Dysplasie, epiphysäre multiple, mit Miniepiphysen Dysplasie, mesomele, der oberen Extremität Dysplasie, pelvi-skapuläre Intelligenzminderung, X-chromosomale, Typ Shashi Muskel-Augen-Gehirn-Krankheit Bowen-Conradi-Syndrom Epiphysäre Tüpfelung-osteoklastische Hyperplasie-Syndrom Kleinwuchs, mesomeler, Typ Reinhardt-Pfeiffer Genetische Syndrome mit Reduktionsdefekten der Extremitäten Treacher-Collins-Syndrom Bruck-Syndrom Spondylo-Kamptodaktylie-Syndrom Klumpfuß, familiärer, durch Mikrodeletion 5q31 Hypohidrose-Schmelzhypoplasie-Palmoplantarkeratose-Intelligenzminderung-Syndrom Chondroektodermale Dysplasie mit Nachtblindheit Polydaktylie des triphalangealen Daumens Intelligenzminderung, X-chromosomale, Typ Vitale Zygodaktylie Typ 3 GMS-Syndrom Lakrimo-aurikulo-dento-digitales Syndrom Metachondromatose Intelligenzminderung-Gesichtsdysmorphie-Syndrom durch SETD5-Haploinsuffizienz Intelligenzminderung, X-chromosomale, Typ Stocco Dos Santos Intelligenzminderung-Entwicklungsverzögerung-Kontrakturen-Syndrom Polymikrogyrie, bilaterale generalisierte Crisponi-Syndrom Polydaktylie, postaxiale, Typ B Hyperekplexie - Epilepsie FRAXE-Syndrom Mikroduplikationssyndrom 20q11.2 Angelman-Syndrom durch maternale Deletion 15q11q13 Polysyndaktylie Intelligenzminderung, X-chromosomale, Typ Wittwer Wiedemann-Rautenstrauch-Syndrom Plagiozephalie, isolierte FBLN1-abhängiges Entwicklungsverzögerung-ZNS-Anomalien-Syndaktylie-Syndrom Polydaktylie eines biphalangealen Daumens und/oder Hallux Wildervanck-Syndrom Mikrodeletionssyndrom 2q37 Multizentrische karpotarsale Osteolyse mit oder ohne Nephropathie Blepharophimose-Intelligenzminderung-Syndrom Typ SBBYS Okihiro-Syndrom durch Punktmutationen Femuragenesie/-hypoplasie, unilateral Chondrodysplasia punctata, rhizomele, Typ 2 Thrombozytopenie-Radiusaplasie-Syndrom Metaphysäre Dysostose-Intelligenzminderung-Schallleitungsschwerhörigkeit-Syndrom Poland-Syndrom Polydaktylie des Zeigefingers Intelligenzminderung, X-chromosomale, Typ Wilson Cherubismus Kryptorchismus-Arachnodaktylie-Intelligenzminderung-Syndrom Fibula-Aplasie - komplexe Brachydaktylie Holoprosenzephalie, mikroforme Talus verticalis, kongenital, bilateral SLC35A1-CDG Skalpdefekte - postaxiale Polydaktylie Brachydaktylie-arterielle Hypertension-Syndrom Osteolyse-Syndrom, distales, autosomal-rezessives X-chromosomale Epilepsie mit Lernstörungen und Verhaltensauffälligkeiten Endokrine Krankheit, seltene Brachydaktylie-Kleinwuchs-Retinitis pigmentosa-Syndrom Hoyeraal-Hreidarsson-Syndrom Angelman-Syndrom durch paternale UPD 15 Dysplasie, metaphysäre - Maxillahypoplasie - Brachydaktylie Kleeblattschädel - asphyxierende Thoraxdysplasie Polydaktylie, nicht-syndromale Steinfeld-Syndrom Ataxie, spinozerebelläre X-chromosomale, Typ 4 Prader-Willi-Syndrom durch paternale Deletion von 15q11.13, Typ 1 Osteomesopyknose Intelligenzminderung, X-chromosomale, Typ Cabezas Wilson-Turner-Syndrom Kraniosynostose und Zahnanomalien Myopathie, zentronukleäre, X-chromosomale Präaxiale Brachydaktylie-Hallux varus-Syndrom Torg-Winchester-Syndrom Kleefstra-Syndrom durch Punktmutationen Nicolaides-Baraitser-Syndrom Simpson-Golabi-Behmel-Syndrom Typ 2 Bohring-Opitz-Syndrom Schwere motorische und intellektuelle Beeinträchtigung-sensorinsorineurale Schwerhörigkeit-Dystonie-Syndrom Prader-Willi-Syndrom durch Translokation Grant-Syndrom Holoprosenzephalie, septopräoptische Männlicher Hypogonadismus-Intelligenzminderung-Skelettanomalien-Syndrom Larsen-ähnliches Syndrom - Knochendysplasie - Kleinwuchs Kleinwuchs, mikrozephaler primordialer, Typ Toriello Mikrodeletionssyndrom 15q13.3 Osteopathia striata - Hyperpigmentierung - weiße Stirnlocke X-chromosomale Intelligenzminderung-Krämpfe-Psoriasis-Syndrom HSD10-Mangel, atypische Form Carney-Komplex-Trismus-Pseudokamptodaktylie-Syndrom Larsen-ähnliches Syndrom, letale Form Seltener Entwicklungsdefekt während der Embryogenese Proximales Mikroduplikationssyndrom 16p11.2 Lissenzephalie Arthrogrypose-ähnliche Handanomalie mit sensorineuraler Schwerhörigkeit Exostosen-Anetodermie-Brachydaktylie Typ E-Syndrom Polydaktylie - Myopie Dysplasie, fronto-metaphysäre Corpus callosum-Agenesie-Genitalfehlbildung-Syndrom Osteopetrose Humerusagenesie/-hypoplasie, bilateral ADNP-Syndrom Rolando-Epilepsie-Sprachdyspraxie-Syndrom Dysplasie, akromele frontonasale Dysplasie, osteoglophone Dysplasie, anauxetische Ataxie, spinozerebelläre X-chromosomale, Typ 3 Rachitis, hypophosphatämische, autosomal-dominante Ulnare Hemimelie, bilateral Humeroradiale Synostose, unilaterale Kleinwuchs, parastrematischer X-chromosomale Intelligenzminderung-Hypogonadismus-Ichthyose-Adipositas-Kleinwuchs-Syndrom Saug-/Schluckstörung Kamptodaktylie - Hochwuchs - Skoliose - Hörverlust Tibia, fehlende - Polydaktylie - arachnoide Zysten ANK3-assoziierte Intelligenzminderung-Sprachstörung-Schlafstörung-Syndrom Foramina parietalia mit Klavikulahypoplasie Cutis gyrata-Acanthosis nigricans-Kraniosynostose-Syndrom Grubben-de-Cock-Borghgraef-Syndrom Chondrodysplasia punctata, rhizomele, Typ 3 Oro-fazio-digitales Syndrom Typ 5 Einschlusskörperchenmyopathie mit Paget-Syndrom und frontotemporaler Demenz Hypophosphatämie, X-chromosomale Intelligenzminderung, X-chromosomale, Typ Brooks Sheldon-Hall-Syndrom ALG11-CDG Mikrobrachyzephalie - Ptosis - Lippenspalte Oliver-Syndrom Dysplasie, spondyloepimetaphysäre, Typ Strudwick Hypomyelinisierung - kongenitale Katarakt Tibiaaplasie - Ektrodaktylie Goodman-Syndrom Laryngeale Abduktorenlähmung-Intelligenzminderung-Syndrom Intelligenzminderung-Alakrimie-Achalasie-Syndrom Monoaminoxidase-A-Mangel Dysplasie, spondyloepimetaphysäre, X-chromosomale Cohen-Syndrom Dysplasie, platyspondylitische, Typ Torrance Prader-Willi-Syndrom durch Imprinting-Mutation Feingold-Syndrom Typ 1 Osteopetrose mit renaler tubulärer Azidose Präaxiale Polydaktylie-Kolobom-Intelligenzminderung-Syndrom Kleinwuchs-Intelligenzminderung-Augenanomalien-Lippen-Gaumen-Spalte-Syndrom Hutchinson-Gilford-Syndrom Chondrodysplasie-Störung der Geschlechtsentwicklung-Syndrom Pelizaeus-Merzbacher-Krankheit, konnatale Form Laurence-Moon-Syndrom Intelligenzminderung, X-chromosomale, Typ Gu Arthrogryposis multiplex congenita-Whistling-face-Syndrom Knochendysplasie, osteosklerotische, letale Form Kraniofaziale Konodysplasie Hypoplastische Tibia-postaxiale Polydaktylie-Syndrom Entwicklungs- und Sprachverzögerung durch SOX5-Mangel Trommelschlägelfinger, isolierte kongenitale Osteoporose-Pseudoglioma-Syndrom Frühbeginnender Parkinsonismus - Intelligenzminderung Mammary-digital-nail-Syndrom 3MC-Syndrom Mikrodeletionssyndrom 8q21.11 Blepharophimose-Intelligenzminderung-Syndrom Typ MKB Dysplasie, mesomele, Typ Savarirayan Pitt-Hopkins-ähnliches Syndrom Legg-Calvé-Perthes-Krankheit Syndrom der lateralen Meningozele Intelligenzminderung-Krämpfe-Makrozephalie-Adipositas-Syndrom Dakryozystitis-Osteopoikilose-Syndrom Syndaktylie-Telekanthus-anogenitale und renale Fehlbildungen-Syndrom Dysplasie, spondyloepimetaphysäre, Typ Shohat Tricho-rhino-phalangeales Syndrom Typ 1 Marfan-Syndrom, neonatales Familiäre digitale Arthropathie mit Brachydaktylie Yunis-Varon-Syndrom Cornelia de Lange-Syndrom Arthrogrypose mit okulomotorischen und elektroretinalen Anomalien Dysplasie, mesomele, Typ Kantaputra Dysplasie, faziokardiomele letale Intelligenzminderung, X-chromosomale, Typ Snyder Dysplasie, spondyloepimetaphysäre, Typ Missouri Dysplasie, mikrozephale osteodysplastische, Typ Saul-Wilson 15q-Großwuchs-Syndrom Thanatophore Dysplasie Fibrodysplasia ossificans progressiva Patella-Chondromalazie, familiäre Ulna-Dysplasie, metaphysäre Mikrozephalie-Krämpfe-Intelligenzminderung-Kardiopathie-Syndrom CHIME-Syndrom Radioulnare Synostose, bilaterale Brachymorphie-Onychodysplasie-Dysphalangie-Syndrom Pseudohypoparathyreoidismus Typ 1A Hallux varus mit präaxialer Polysyndaktylie Feingold-Syndrom Typ 2 Temtamy präaxiales Brachydaktylie-Syndrom Distale Triplikation 15q Brachyolmie Hereditäre Thrombozytose mit transversalen Extremitätendefekt POMT2-assoziierte Gliedergürtelmuskeldystrophie R14 Intelligenzminderung, schwere, mit progressiver spastischer Paraplegie Mikrozephalie-Gaumenspalte-abnorme Retinapigmentierung-Syndrom Endokrin-zerebro-osteodysplastisches Syndrom IMAGE-Syndrom Fronto-nasale Dysplasie-schwere Mikrophthalmie-Gesichtsspalten-Syndrom X-chromosomale kongenitale Glykosylierungs-Krankheit mit Intelligenzminderung als Hauptmerkmal SPONASTRIME-Dysplasie Pseudopseudohypoparathyreoidismus Microcephaly-cervical spine fusion anomalies syndrome Lenz-Majewski hyperostotic dwarfism Intellectual disability-myopathy-short stature-endocrine defect syndrome X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome Pseudoachondroplasia Hip dysplasia, Beukes type Pachydermoperiostosis Astley-Kendall dysplasia Spondyloepimetaphyseal dysplasia with joint laxity Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome Spondylo-megaepiphyseal-metaphyseal dysplasia Stüve-Wiedemann syndrome Hypoxanthine-guanine phosphoribosyltransferase deficiency Harrod syndrome 17q21.31 microduplication syndrome Symbrachydactyly of hands and feet Infantile osteopetrosis with neuroaxonal dysplasia FOXP1 Syndrome White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 19p13.13 microdeletion syndrome Congenital muscular dystrophy with intellectual disability and severe epilepsy Costello syndrome Weismann-Netter syndrome Radio-ulnar synostosis, unilateral Intermediate osteopetrosis Talo-patello-scaphoid osteolysis Osteonecrosis Bone dysplasia, Azouz type Crossed polysyndactyly X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome Mowat-Wilson syndrome due to monosomy 2q22 Inverse Klippel-Trénaunay syndrome Blomstrand lethal chondrodysplasia Congenital elbow dislocation, bilateral Congenital pseudoarthrosis of the clavicle Autosomal dominant popliteal pterygium syndrome X-linked skeletal dysplasia-intellectual disability syndrome Osteonecrosis of the jaw Limb-mammary syndrome Mosaic monosomy X Microlissencephaly-micromelia syndrome B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome STT3B-CDG Microcephaly-microcornea syndrome, Seemanova type Summitt syndrome X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome Perinatal lethal hypophosphatasia Intellectual disability-short stature-hypertelorism syndrome PMM2-CDG Lipodystrophy-intellectual disability-deafness syndrome Tall stature-long halluces-multiple extra-epiphyses syndrome Zellweger-like syndrome without peroxisomal anomalies Diaphyseal medullary stenosis-bone malignancy syndrome Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Spondyloepimetaphyseal dysplasia, Handigodu type Severe intellectual disability-progressive spastic diplegia syndrome X-linked intellectual disability with isolated growth hormone deficiency Pelizaeus-Merzbacher disease, classic form Deafness-intellectual disability syndrome, Martin-Probst type W syndrome Familial avascular necrosis of femoral head Frank-Ter Haar syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome Distal arthrogryposis type 5D Feingold syndrome Severe X-linked intellectual disability, Gustavson type Craniometadiaphyseal dysplasia, wormian bone type Rare syndromic intellectual disability Microcephaly-deafness-intellectual disability syndrome X-linked intellectual disability, Seemanova type Buschke-Ollendorff syndrome Femoral-facial syndrome Hypospadias-intellectual disability, Goldblatt type syndrome STT3A-CDG Tricho-dento-osseous syndrome X-linked intellectual disability, Pai type Non syndromic limb overgrowth Diaphanospondylodysostosis Saldino-Mainzer syndrome Blepharophimosis-intellectual disability syndrome, Verloes type GM3 synthase deficiency Endosteal sclerosis-cerebellar hypoplasia syndrome Rare skin disease 17q11.2 microduplication syndrome X-linked intellectual disability, Stoll type Walker-Warburg syndrome Primary avascular necrosis Disorders of vitamin D metabolism Metaphyseal dysplasia, Braun-Tinschert type X-linked intellectual disability, Shrimpton type Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Familial hypocalciuric hypercalcemia type 1 Intellectual disability-polydactyly-uncombable hair syndrome MAN1B1-CDG Spondyloenchondrodysplasia Neurofaciodigitorenal syndrome Brachydactyly-long thumb syndrome Diastrophic dysplasia Fountain syndrome Singleton-Merten dysplasia X-linked intellectual disability, Turner type Ptosis-syndactyly-learning difficulties syndrome Premature chromosome condensation with microcephaly and intellectual disability Caffey disease Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome Triphalangeal thumbs-brachyectrodactyly syndrome Craniofaciofrontodigital syndrome Pyruvate dehydrogenase deficiency X-linked intellectual disability-acromegaly-hyperactivity syndrome Humero-ulnar synostosis X-linked progressive cerebellar ataxia Hemimelia Kienbock disease Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Idiopathic juvenile osteoporosis Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome Neuroectodermal-endocrine syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome ALG1-CDG Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature Full schwannomatosis Congenital genu flexum Metaphyseal anadysplasia Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome Phosphoribosylpyrophosphate synthetase superactivity Calvarial doughnut lesions-bone fragility syndrome Mucopolysaccharidosis type 2, severe form Williams syndrome X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome Alobar holoprosencephaly X-linked intellectual disability-retinitis pigmentosa syndrome Thanatophoric dysplasia type 1 Otopalatodigital syndrome type 1 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome Spondylo-ocular syndrome Familial expansile osteolysis Traumatic avascular necrosis 12q14 microdeletion syndrome Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments Macrodactyly of toes, unilateral Cleidocranial dysplasia Spastic paraplegia-epilepsy-intellectual disability syndrome Craniosynostosis-intracranial calcifications syndrome X-linked neurodegenerative syndrome, Bertini type Mazabraud syndrome CHST3-related skeletal dysplasia Hypomyelination neuropathy-arthrogryposis syndrome Sinding-Larsen-Johansson disease Panner disease Dysspondyloenchondromatosis Cleidorhizomelic syndrome Madelung deformity Osgood-Schlatter disease Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Genochondromatosis type 1 Midline interhemispheric variant of holoprosencephaly Hennekam syndrome Spastic paraplegia-glaucoma-intellectual disability syndrome Ulnar/fibula ray defect-brachydactyly syndrome X-linked neurodegenerative syndrome, Hamel type Mowat-Wilson syndrome due to a ZEB2 point mutation 15q24 microdeletion syndrome Lowry-MacLean syndrome Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome COG8-CDG Brachydactyly type A6 Ischiovertebral syndrome Fried syndrome Primary intraosseous venous malformation Trigonocephaly-broad thumbs syndrome Autism spectrum disorder-epilepsy-arthrogryposis syndrome Craniosynostosis-anal anomalies-porokeratosis syndrome Acheiria, bilateral Idiopathic avascular necrosis Hernández-Aguirre Negrete syndrome Guttmacher syndrome Rare urogenital disease Keutel syndrome Non-syndromic metopic craniosynostosis X-linked intellectual disability-ataxia-apraxia syndrome Rare systemic or rheumatologic disease Arthrogryposis-anterior horn cell disease syndrome Brachydactyly type C Lujan-Fryns syndrome Secondary avascular necrosis Hereditary bullous dystrophy, macular type Hypocalcemic rickets Oculoauriculovertebral spectrum with radial defects Autosomal recessive spastic paraplegia type 11 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia Hereditary hypophosphatemic rickets with hypercalciuria Hunter-McAlpine syndrome Deafness-onychodystrophy syndrome Genitopatellar syndrome Primary bone dysplasia Brachydactyly type A1 Apodia, unilateral Paraplegia-brachydactyly-cone-shaped epiphysis syndrome Trigonocephaly-short stature-developmental delay syndrome Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Acropectoral syndrome Ramos-Arroyo syndrome Brachydactyly type E Spondyloepiphyseal dysplasia congenita Acrocephalopolydactyly Osteochondrosis Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome Monosomy 22q13.3 Optic atrophy-intellectual disability syndrome Acrocardiofacial syndrome X-linked Charcot-Marie-Tooth disease Adactyly of foot, bilateral Ear-patella-short stature syndrome S-adenosylhomocysteine hydrolase deficiency Subependymal nodular heterotopia Terminal transverse defects of arm Craniosynostosis, Herrmann-Opitz type Sub-cortical nodular heterotopia Rare circulatory system disease X-linked Charcot-Marie-Tooth disease type 6 Lesch-Nyhan syndrome Otopalatodigital syndrome spectrum disorder Coffin-Siris syndrome THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Pfeiffer syndrome type 1 Microcephaly-thin corpus callosum-intellectual disability syndrome Chondrodysplasia punctata, tibial-metacarpal type Brachydactyly type A4 Brain malformation-congenital heart disease-postaxial polydactyly syndrome Dyggve-Melchior-Clausen disease Brachytelephalangic chondrodysplasia punctata Orofaciodigital syndrome Microphthalmia-brain atrophy syndrome Spondylometaphyseal dysplasia, Golden type Nodular neuronal heterotopia Rhizomelic dysplasia, Patterson-Lowry type Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome Brachydactyly type A2 Maffucci syndrome Pfeiffer syndrome type 3 Secondary non-traumatic avascular necrosis Infantile hypophosphatasia Pfeiffer syndrome type 2 Renpenning syndrome Sporadic infantile bilateral striatal necrosis Orofaciodigital syndrome type 11 Cleft palate-short stature-vertebral anomalies syndrome Mowat-Wilson syndrome HSD10 disease Congenital muscular dystrophy with cerebellar involvement Arthrogryposis-renal dysfunction-cholestasis syndrome Wrinkly skin syndrome Crouzon syndrome-acanthosis nigricans syndrome Brachydactyly type A7 Rare otorhinolaryngologic disease Familial infantile bilateral striatal necrosis Distal deletion 6p Axial spondylometaphyseal dysplasia Syndromic multisystem autoimmune disease due to Itch deficiency Juvenile sialidosis type 2 Hamel cerebro-palato-cardiac syndrome 48,XXXY syndrome Epiphysiolysis of the hip Tetramelic monodactyly X-linked intellectual disability, Porteous type Guanidinoacetate methyltransferase deficiency Symphalangism with multiple anomalies of hands and feet Postaxial acrofacial dysostosis Femur-fibula-ulna complex Autosomal dominant otospondylomegaepiphyseal dysplasia Polymicrogyria Humerus trochlea aplasia Hypotonia-speech impairment-severe cognitive delay syndrome Hirsutism-skeletal dysplasia-intellectual disability syndrome Bilateral polymicrogyria DPAGT1-CDG Partington syndrome Female restricted epilepsy with intellectual disability Pelvis-shoulder dysplasia Distal symphalangism X-linked intellectual disability, Golabi-Ito-Hall type Syndactyly type 4 Saethre-Chotzen syndrome Pelvic dysplasia-arthrogryposis of lower limbs syndrome Atelosteogenesis type III Cardiofaciocutaneous syndrome Robinow syndrome Syndactyly type 2 Proximal symphalangism Mucopolysaccharidosis type 2, attenuated form 3C syndrome Amelia Dysostosis 48,XXYY syndrome Intercalary limb defects Achondroplasia Split hand or/and split foot malformation Terminal limb defects Adactyly of hand Muenke syndrome Postaxial polydactyly of fingers Acrofacial dysostosis Dysostosis with limb anomaly as a major feature Brachydactyly Dysostosis with limb and face anomalies as a major feature Preaxial polydactyly of fingers Joint formation defects Congenital joint dislocations Intellectual disability-brachydactyly-Pierre Robin syndrome Acrocallosal syndrome Congenital deformities of limbs Congenital deformities of fingers Mandibuloacral dysplasia with type A lipodystrophy Acromesomelic dysplasia, Maroteaux type Dysostosis with combined reduction defects of upper and lower limbs Mandibuloacral dysplasia with type B lipodystrophy Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy Adenylosuccinate lyase deficiency Syndrome with limb reduction defects Lethal congenital contracture syndrome Aicardi syndrome Aicardi-Goutières syndrome Amelia of upper limb Albers-Schönberg osteopetrosis Popliteal pterygium syndrome Humeral agenesis/hypoplasia Allan-Herndon-Dudley syndrome Congenital absence of upper arm and forearm with hand present Amelia of lower limb Tetra-amelia Congenital absence of both lower leg and foot Acheiria Congenital absence of thigh and lower leg with foot present Congenital absence of both forearm and hand Angelman syndrome Congenital hypoplasia of thumb Gorham-Stout disease Apodia Brachydactyly of toes Split hand Apert syndrome Preaxial polydactyly of toes Constriction rings syndrome Syndactyly type 6 Familial isolated clinodactyly of fingers Postaxial polydactyly of toes Congenital pseudoarthrosis of the fibula Camptodactyly of fingers Congenital patella dislocation Borjeson-Forssman-Lehmann syndrome Macrodactyly of fingers X-linked intellectual disability, Cilliers type Syndromic craniosynostosis Congenital absence of upper arm and forearm with hand present, unilateral Congenital absence of upper arm and forearm with hand present, bilateral Fibular hemimelia, unilateral Alazami syndrome Cockayne syndrome type 3 Autosomal recessive cutis laxa type 2 Léri-Weill dyschondrosteosis Fibrous dysplasia of bone Central polydactyly of fingers, bilateral 17p13.3 microduplication syndrome Metaphyseal chondrodysplasia, Jansen type Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome Aphalangy-syndactyly-microcephaly syndrome Neurogenic arthrogryposis multiplex congenita Infantile-onset X-linked spinal muscular atrophy Arthrogryposis due to muscular dystrophy Progressive pseudorheumatoid arthropathy of childhood Pyruvate dehydrogenase E1-beta deficiency Congenital absence/hypoplasia of fingers excluding thumb Brachydactyly of fingers Antley-Bixler syndrome Fanconi anemia Split foot Central polydactyly Hyperphalangy Bannayan-Riley-Ruvalcaba syndrome Congenital pseudoarthrosis of the tibia Tibio-fibular synostosis Auriculoosteodysplasia True congenital shoulder dislocation Congenital contractural arachnodactyly Congenital pseudoarthrosis of the radius X-linked intellectual disability, Nascimento type Congenital pseudoarthrosis of the ulna Patella aplasia/hypoplasia, unilateral X-linked cerebral-cerebellar-coloboma syndrome Isolated congenital radial head dislocation X-linked dominant chondrodysplasia, Chassaing-Lacombe type Macrodactyly of toes Patella aplasia/hypoplasia, bilateral X-linked cerebral adrenoleukodystrophy X-linked intellectual disability-craniofacioskeletal syndrome Amelia of upper limb, unilateral X-linked intellectual disability, Van Esch type CHILD syndrome Amelia of upper limb, bilateral Campomelic dysplasia X-linked intellectual disability-spastic quadriparesis syndrome Upper limb hypertrophy Lower limb hypertrophy Humeral agenesis/hypoplasia, unilateral Amelia of lower limb, unilateral Developmental delay-deafness syndrome, Hildebrand type Amelia of lower limb, bilateral Radial hemimelia, unilateral Radial hemimelia, bilateral Femoral agenesis/hypoplasia, bilateral X-linked syndromic intellectual disability Tibial hemimelia, unilateral Tibial hemimelia, bilateral Ulnar hemimelia, unilateral Fibular hemimelia, bilateral Non-rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata Congenital absence of both forearm and hand, unilateral Congenital absence of both forearm and hand, bilateral Congenital absence of thigh and lower leg with foot present, unilateral Congenital absence of thigh and lower leg with foot present, bilateral Arthrogryposis-severe scoliosis syndrome Acheiria, unilateral Congenital absence of both lower leg and foot, unilateral Cockayne syndrome Congenital absence of both lower leg and foot, bilateral Microcephalic primordial dwarfism, Dauber type Coffin-Lowry syndrome Parkes Weber syndrome Klippel-Trénaunay syndrome Apodia, bilateral Adactyly of foot, unilateral Autosomal dominant multiple pterygium syndrome Crouzon syndrome Cockayne syndrome type 1 Cockayne syndrome type 2 ISPD-related limb-girdle muscular dystrophy R20 Carpenter syndrome Hyperphalangy, unilateral Hyperphalangy, bilateral Digital anomalies-intellectual disability-short stature syndrome Symbrachydactyly of hand and foot, unilateral Dubowitz syndrome Autism spectrum disorder due to AUTS2 deficiency Nager syndrome Multiple epiphyseal dysplasia 19q13.11 microdeletion syndrome Preaxial polydactyly of toes, unilateral Central polydactyly of fingers, unilateral Preaxial polydactyly of toes, bilateral Zygodactyly type 2 Zygodactyly type 1 Synpolydactyly type 2 Oncogenic osteomalacia Synpolydactyly type 3 Zygodactyly type 4 Ellis Van Creveld syndrome Humero-radio-ulnar synostosis, unilateral Microduplication Xp11.22p11.23 syndrome Humero-radio-ulnar synostosis, bilateral Congenital vertical talus, unilateral Ollier disease Humero-ulnar synostosis, unilateral Macrocephaly-developmental delay syndrome Humero-ulnar synostosis, bilateral Humero-radial synostosis, bilateral Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome Madelung deformity, unilateral Madelung deformity, bilateral Congenital genu recurvatum Congenital elbow dislocation, unilateral Multiple osteochondromas Congenital patella dislocation, bilateral Macrodactyly of fingers, unilateral Bainbridge-Ropers syndrome Congenital patella dislocation, unilateral Macrodactyly of toes, bilateral Macrodactyly of fingers, bilateral Lethal multiple pterygium syndrome Simpson-Golabi-Behmel syndrome Goldenhar syndrome Gordon syndrome 3q27.3 microdeletion syndrome Phalangeal microgeodic syndrome Greig cephalopolysyndactyly syndrome Holt-Oram syndrome Familial hypocalciuric hypercalcemia Joubert syndrome with Jeune asphyxiating thoracic dystrophy Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion Hypophosphatasia Hypophosphatemic rickets Gnathodiaphyseal dysplasia Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 X-linked lissencephaly with abnormal genitalia Incontinentia pigmenti Jeune syndrome Kniest dysplasia Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 Prader-Willi syndrome due to paternal 15q11q13 deletion Trichorhinophalangeal syndrome type 2 Larsen syndrome Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome Spondyloepimetaphyseal dysplasia, Geneviève type Stickler syndrome type 1 Otopalatodigital syndrome type 2 Stickler syndrome type 2 Marfan syndrome Marshall syndrome Meckel syndrome Menkes disease Temple syndrome Temple syndrome due to paternal 14q32.2 hypomethylation Mucopolysaccharidosis type 2 Bilateral perisylvian polymicrogyria Early-onset X-linked optic atrophy Spondylometaphyseal dysplasia, A4 type Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome Nance-Horan syndrome Neurofibromatosis type 1 Full NF2-related schwannomatosis Norrie disease Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome Congenital central hypoventilation syndrome Ornithine transcarbamylase deficiency Autosomal recessive malignant osteopetrosis Pallister-Hall syndrome Dysplasia of head of femur, Meyer type Pelizaeus-Merzbacher disease Autosomal recessive cutis laxa type 2A Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Autosomal recessive cutis laxa type 2, classic type Prader-Willi syndrome MAGEL2-related Prader-Willi-like syndrome Pycnodysostosis Short ulna-dysmorphism-hypotonia-intellectual disability syndrome Oculoauriculofrontonasal syndrome Townes-Brocks syndrome Heart-hand syndrome, Slovenian type Turner syndrome Fragile X syndrome Monosomy X Acheiropodia Acrodysostosis Acromesomelic dysplasia, Hunter-Thompson type Adams-Oliver syndrome ADULT syndrome Hypoglossia-hypodactyly syndrome Alopecia-contractures-dwarfism-intellectual disability syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Arthrogryposis multiplex congenita Aniridia-cerebellar ataxia-intellectual disability syndrome Aniridia-intellectual disability syndrome Thumb stiffness-brachydactyly-intellectual disability syndrome Familial scaphocephaly syndrome, McGillivray type X-linked Charcot-Marie-Tooth disease type 5 Autosomal recessive cutis laxa type 2B Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome Patella aplasia/hypoplasia Smith-Lemli-Opitz syndrome Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Microphthalmia with linear skin defects syndrome Mononen-Karnes-Senac syndrome Myhre syndrome Nail-patella syndrome Microcephalic primordial dwarfism, Montreal type Metatropic dysplasia Microcephalic osteodysplastic primordial dwarfism types I and III X-linked intellectual disability-cerebellar hypoplasia syndrome Okamoto syndrome Pancreatic insufficiency-anemia-hyperostosis syndrome Opitz GBBB syndrome Orofaciodigital syndrome type 3 Unilateral hemispheric polymicrogyria Nasu-Hakola disease X-linked Charcot-Marie-Tooth disease type 3 Osteoporosis-oculocutaneous hypopigmentation syndrome Endosteal hyperostosis, Worth type Rare chromosomal anomaly Fuhrmann syndrome Short stature-webbed neck-heart disease syndrome Cardiocranial syndrome, Pfeiffer type Phocomelia, Schinzel type X-linked intellectual disability-plagiocephaly syndrome Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome Triphalangeal thumb-polysyndactyly syndrome Musculocontractural Ehlers-Danlos syndrome Pseudoprogeria syndrome Pyle disease Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome Intellectual disability, Buenos-Aires type Intellectual disability, Wolff type Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency Atypical Rett syndrome Richieri Costa-da Silva syndrome Autosomal dominant Robinow syndrome Scheuermann's disease Short rib-polydactyly syndrome, Majewski type Polyostotic fibrous dysplasia CTCF-related neurodevelopmental disorder X-linked spasticity-intellectual disability-epilepsy syndrome Rare genetic bone development disorder Brachyolmia type 1, Hobaek type Multiple epiphyseal dysplasia type 5 Spondylometaphyseal dysplasia, Kozlowski type Autosomal recessive omodysplasia Multiple synostoses syndrome Pseudodiastrophic dysplasia Syndactyly-polydactyly-ear lobe syndrome Rett syndrome Goldberg-Shprintzen megacolon syndrome Atkin-Flaitz syndrome Metaphyseal chondrodysplasia, Kaitila type Ulna hypoplasia-intellectual disability syndrome Thumb deformity-alopecia-pigmentation anomaly syndrome Hereditary breast cancer Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome Solitary median maxillary central incisor syndrome XYLT1-CDG Salt-and-pepper syndrome ANE syndrome Johanson-Blizzard syndrome Johnson neuroectodermal syndrome Kabuki syndrome Sanjad-Sakati syndrome Familial clubfoot due to PITX1 point mutation Non-syndromic bicoronal craniosynostosis KBG syndrome Keratosis follicularis-dwarfism-cerebral atrophy syndrome Marfan syndrome type 2 Lethal Kniest-like dysplasia Patterson-Stevenson-Fontaine syndrome MASA syndrome FATCO syndrome Microcephaly-cardiomyopathy syndrome Rubinstein-Taybi syndrome POMT1-related limb-girdle muscular dystrophy R11 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome Tuberous sclerosis complex CEDNIK syndrome Atelosteogenesis type I Familial scaphocephaly syndrome Blepharonasofacial malformation syndrome Boomerang dysplasia Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Aymé-Gripp syndrome Brachydactyly-elbow wrist dysplasia syndrome Brachydactyly-mesomelia-intellectual disability-heart defects syndrome Eiken syndrome Brachytelephalangy-dysmorphism-Kallmann syndrome C syndrome Campomelia, Cumming type Camptobrachydactyly Camurati-Engelmann disease COG5-CDG Dappled diaphyseal dysplasia Cheirospondyloenchondromatosis Spondyloepiphyseal dysplasia, Maroteaux type Heart-hand syndrome type 2 COG4-CDG Congenital heart defect-round face-developmental delay syndrome Intellectual disability-facial dysmorphism-hand anomalies syndrome Cataract-hypertrichosis-intellectual disability syndrome Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome Cataract-nephropathy-encephalopathy syndrome Catel-Manzke syndrome Cortical blindness-intellectual disability-polydactyly syndrome Cerebrocostomandibular syndrome Hydrocephaly-cerebellar agenesis syndrome Familial osteochondritis dissecans Charlie M syndrome Hypoxanthine guanine phosphoribosyltransferase partial deficiency Hair defect-photosensitivity-intellectual disability syndrome Tarsal-carpal coalition syndrome Lethal chondrodysplasia, Moerman type Pyruvate dehydrogenase E2 deficiency Lethal chondrodysplasia, Seller type Pyruvate dehydrogenase phosphatase deficiency Lethal recessive chondrodysplasia Desbuquois syndrome Greenberg dysplasia Otospondylomegaepiphyseal dysplasia Ring chromosome 10 syndrome COFS syndrome Uveal coloboma-cleft lip and palate-intellectual disability Contractures-ectodermal dysplasia-cleft lip/palate syndrome Lethal congenital contracture syndrome type 1 ALG3-CDG X-linked complicated corpus callosum dysgenesis MPDU1-CDG ALG8-CDG Hyperphosphatasia-intellectual disability syndrome ALG2-CDG MGAT2-CDG Short rib-polydactyly syndrome Autosomal recessive Robinow syndrome Coxoauricular syndrome Crane-Heise syndrome Cranioectodermal dysplasia Cantú syndrome SPECC1L-related hypertelorism syndrome Larsen-like syndrome, B3GAT3 type Chondrodysplasia punctata, Sheffield type Chondrodysplasia punctata, Toriello type CK syndrome Craniomicromelic syndrome Craniotelencephalic dysplasia Craniosynostosis-cataract syndrome Craniosynostosis Craniosynostosis-dysmorphism-brachydactyly syndrome Microcephalic primordial dwarfism due to ZNF335 deficiency Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Currarino syndrome Xp22.13p22.2 duplication syndrome Curry-Jones syndrome Polymicrogyria due to TUBB2B mutation Dandy-Walker malformation-postaxial polydactyly syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency Infantile bilateral striatal necrosis Distal deletion 3p Pseudohypoparathyroidism type 1C X-linked lethal multiple pterygium syndrome Split hand-split foot-deafness syndrome Brachydactyly type B2 Distal arthrogryposis type 10 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome Craniolenticulosutural dysplasia Wolcott-Rallison syndrome Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher disease, transitional form Distal duplication 15q Null syndrome Dyschondrosteosis-nephritis syndrome Temtamy syndrome Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Angioosteohypotrophic syndrome Acrofacial dysostosis, Palagonia type Acrofacial dysostosis, Rodríguez type Glycerol kinase deficiency, infantile form Oculomaxillofacial dysostosis Dysostosis, Stanescu type Spastic paraplegia-Paget disease of bone syndrome Kyphomelic dysplasia Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 Ghosal hematodiaphyseal dysplasia Thoracomelic dysplasia Glycogen storage disease due to LAMP-2 deficiency Dysplasia epiphysealis hemimelica Lowry-Wood syndrome Schimke immuno-osseous dysplasia Bone dysplasia, lethal Holmgren type Avascular necrosis Syndromic neurometabolic disease with non-X-linked intellectual disability Spondyloperipheral dysplasia-short ulna syndrome Skeletal dysplasia-epilepsy-short stature syndrome Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome Sialidosis type 2 Dyssegmental dysplasia, Silverman-Handmaker type Prenatal benign hypophosphatasia Melorheostosis with osteopoikilosis EEM syndrome Childhood-onset hypophosphatasia Angelman syndrome due to a point mutation Emery-Nelson syndrome Kleefstra syndrome due to 9q34 microdeletion Epilepsy-microcephaly-skeletal dysplasia syndrome Gollop-Wolfgang complex Femoral agenesis/hypoplasia Pai syndrome Angel-shaped phalango-epiphyseal dysplasia Fibrochondrogenesis Floating-Harbor syndrome 49,XXXXY syndrome Chondrodysplasia with joint dislocations, gPAPP type Splenogonadal fusion-limb defects-micrognathia syndrome GAPO syndrome Prominent glabella-microcephaly-hypogenitalism syndrome Focal dermal hypoplasia Acromesomelic dysplasia, Grebe type Hall-Riggs syndrome Hallermann-Streiff syndrome Multiple congenital anomalies-hypotonia-seizures syndrome Acrodysostosis with multiple hormone resistance Rare gynecologic or obstetric disease Lissencephaly type 1 due to doublecortin gene mutation Mesoaxial synostotic syndactyly with phalangeal reduction Holoprosencephaly Congenital pseudoarthrosis of the limbs Holoprosencephaly-craniosynostosis syndrome Infantile systemic hyalinosis Ankylosing vertebral hyperostosis with tylosis Seckel syndrome Smith-Magenis syndrome X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome Aarskog-Scott syndrome Acrocraniofacial dysostosis Acrofacial dysostosis, Weyers type Acropectorovertebral dysplasia Alopecia-epilepsy-pyorrhea-intellectual disability syndrome Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome Autosomal recessive amelia Amniotic bands Isolated anencephaly/exencephaly Rare neoplastic disease Aniridia-ptosis-intellectual disability-familial obesity syndrome Cerebrooculonasal syndrome Roberts syndrome Frontonasal dysplasia-alopecia-genital anomalies syndrome Cloverleaf skull-multiple congenital anomalies syndrome Short rib-polydactyly syndrome, Beemer-Langer type Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Spondyloepimetaphyseal dysplasia, matrilin-3 type L1 syndrome Turner syndrome due to structural X chromosome anomalies Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome Fibular aplasia-ectrodactyly syndrome Radial deficiency-tibial hypoplasia syndrome Arachnodactyly-abnormal ossification-intellectual disability syndrome Distal arthrogryposis type 1 Kuskokwim syndrome Lethal ataxia with deafness and optic atrophy Terminal osseous dysplasia-pigmentary defects syndrome 3M syndrome Geleophysic dysplasia Mesomelic dysplasia, Nievergelt type Microcephalic osteodysplastic primordial dwarfism type II Micromelic dwarfism, Fryns type Unilateral polymicrogyria Familial clubfoot with or without associated lower limb anomalies Oculodentodigital dysplasia Postaxial tetramelic oligodactyly Omodysplasia Lethal omphalocele-cleft palate syndrome Opsismodysplasia Orofaciodigital syndrome type 6 Bilateral frontoparietal polymicrogyria Blount disease Osteopathia striata-cranial sclerosis syndrome Autosomal dominant osteopetrosis type 1 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome Pachygyria-intellectual disability-epilepsy syndrome Juvenile Paget disease Paraplegia-intellectual disability-hyperkeratosis syndrome Congenital limb malformation Pitt-Hopkins syndrome Polymicrogyria-turricephaly-hypogenitalism syndrome Adducted thumbs-arthrogryposis syndrome, Christian type Acrodysplasia scoliosis Qazi-Markouizos syndrome Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome Atelosteogenesis type II Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Rhizomelic syndrome, Urbach type GMPPB-related limb-girdle muscular dystrophy R19 Spondyloepiphyseal dysplasia tarda Spondylometaphyseal dysplasia, Schmidt type Ulnar hemimelia Spondyloepimetaphyseal dysplasia, Irapa type Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type Humero-radial synostosis Humero-radio-ulnar synostosis Familial lambdoid synostosis Radioulnar synostosis-microcephaly-scoliosis syndrome Brachydactyly type B Spondylocarpotarsal synostosis Brachydactyly type A5 Nodulosis-arthropathy-osteolysis syndrome Ballard syndrome Genochondromatosis type 2 Congenital sialidosis type 2 Syndactyly type 1 Syndactyly type 3 Thoracolaryngopelvic dysplasia Slender bone dysplasia X-linked intellectual disability, Cantagrel type X-linked intellectual disability-cubitus valgus-dysmorphism syndrome X-linked intellectual disability, Siderius type Trismus-pseudocamptodactyly syndrome X-linked intellectual disability-precocious puberty-obesity syndrome X-linked intellectual disability, Stevenson type Urban-Rogers-Meyer syndrome X-linked intellectual disability, Zorick type Woodhouse-Sakati syndrome Zimmermann-Laband syndrome X-linked Opitz G/BBB syndrome X-linked intellectual disability-hypotonic face syndrome Ossification anomalies-psychomotor developmental delay syndrome Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome Microcephaly-polymicrogyria-corpus callosum agenesis syndrome Lobar holoprosencephaly Rare infertility X-linked intellectual disability, Sutherland-Haan type X-linked intellectual disability, Hedera type Juberg-Marsidi syndrome Medial condensing osteitis of the clavicle Primary bone dysplasia with micromelia X-linked osteoporosis with fractures Smith-McCort dysplasia Hypotrichosis-intellectual disability, Lopes type Intellectual disability, Birk-Barel type Dysmorphism-short stature-deafness-difference of sex development syndrome Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome Kapur-Toriello syndrome Karsch-Neugebauer syndrome Congenital muscular dystrophy with intellectual disability Desmosterolosis Angioosteohypertrophic syndrome Laurin-Sandrow syndrome Pyruvate dehydrogenase E3 deficiency Macrocephaly-spastic paraplegia-dysmorphism syndrome Hand-foot-genital syndrome Transverse limb deficiency-hemangioma syndrome Mesomelia-synostoses syndrome Syndactyly type 8 Metaphyseal chondrodysplasia, Spahr type Spondyloepiphyseal dysplasia with metatarsal shortening