orphafolder

| 275555 | Preeclampsia
| 275543 | L1 syndrome
| 3353 | Trichodermodysplasia-dental alterations syndrome
| 275534 | Myostatin-related muscle hypertrophy
| 275523 | Dianzani autoimmune lymphoproliferative disease
| 3351 | Trichodental syndrome
| 275517 | Autoimmune lymphoproliferative syndrome with recurrent viral infections
| 3352 | Tricho-dento-osseous syndrome
| 3349 | Treft-Sanborn-Carey syndrome
| 3350 | Tremor-nystagmus-duodenal ulcer syndrome
| 3344 | Weismann-Netter syndrome
| 3347 | Mounier-Kühn syndrome
| 3341 | Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
| 271870 | Rare genetic systemic or rheumatologic disease
| 3342 | Arterial tortuosity syndrome
| 3339 | Toriello-Lacassie-Droste syndrome
| 271861 | Hereditary ATTR amyloidosis
| 271853 | Genetic cardiac anomaly
| 3336 | Tomé-Brunet-Fardeau syndrome
| 271847 | Genetic neuroendocrine tumor
| 3338 | Toriello-Carey syndrome
| 271844 | Genetic urogenital tumor
| 3469 | XK aprosencephaly syndrome
| 269567 | Genetic syndrome with a cerebellar malformation as major feature
| 269570 | Genetic syndrome with a Dandy-Walker malformation as major feature
| 3472 | Yunis-Varon syndrome
| 269573 | Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
| 3471 | Young syndrome
| 3319 | Congenital amegakaryocytic thrombocytopenia
| 3473 | Zimmermann-Laband syndrome
| 3459 | Wilson-Turner syndrome
| 269531 | Other syndrome with a central nervous system malformation as major feature
| 269546 | Syndrome with a Dandy-Walker malformation as major feature
| 3460 | Torg-Winchester syndrome
| 269550 | Genetic non-syndromic central nervous system malformation
| 3464 | Woodhouse-Sakati syndrome
| 269553 | Genetic cerebral malformation
| 269557 | Genetic posterior fossa malformation
| 3466 | WT limb-blood syndrome
| 269560 | Genetic cerebellar malformation
| 3465 | Worster-Drought syndrome
| 269564 | Genetic syndrome with a central nervous system malformation as major feature
| 2749 | Oromandibular-limb hypogenesis syndrome
| 2995 | Baraitser-Winter cerebrofrontofacial syndrome
| 3013 | Radiculomegaly of canine teeth- congenital cataract
| 3200 | Arthrogryposis-ectodermal dysplasia-other anomalies syndrome
| 1570 | Symbrachydactyly of hands and feet
| 3243 | Sweet syndrome
| 1827 | Acromelic frontonasal dysplasia
| 2352 | Kozlowski-Brown-Hardwick syndrome
| 2076 | X-linked intellectual disability-epilepsy syndrome
| 268980 | Isolated focal cortical dysplasia type Ib
| 268987 | Isolated focal cortical dysplasia type Ic
| 3424 | Velo-facial-skeletal syndrome
| 3423 | Vasquez-Hurst-Sotos syndrome
| 268973 | Isolated focal cortical dysplasia type Ia
| 269008 | Isolated focal cortical dysplasia type IIb
| 3433 | Microcephaly-brachydactyly-kyphoscoliosis syndrome
| 269190 | Encephaloclastic disorder
| 268994 | Isolated focal cortical dysplasia type II
| 3429 | Verloove Vanhorick-Brubakk syndrome
| 269001 | Isolated focal cortical dysplasia type IIa
| 2460 | Van den Ende-Gupta syndrome
| 268940 | Bilateral polymicrogyria
| 268943 | Unilateral polymicrogyria
| 3416 | Hyperostosis corticalis generalisata
| 268926 | Midline cerebral malformation
| 268936 | Isolated arhinencephaly
| 3421 | Cerebroretinal vasculopathy
| 3419 | Van Regemorter-Pierquin-Vamos syndrome
| 268961 | Isolated focal cortical dysplasia type I
| 268947 | Unilateral focal polymicrogyria
| 3417 | Van den Bosch syndrome
| 268950 | Cerebral cortical dysplasia
| 3450 | Weissenbacher- Zweymuller syndrome
| 269229 | Pontine tegmental cap dysplasia
| 3453 | Autoimmune polyendocrinopathy type 1
| 269224 | Global cerebellar malformation
| 3448 | Weaver-Williams syndrome
| 269221 | Isolated bilateral hemispheric cerebellar hypoplasia
| 3449 | Weill-Marchesani syndrome
| 269218 | Isolated unilateral hemispheric cerebellar hypoplasia
| 3456 | Wildervanck syndrome
| 269528 | Syndrome with microcephaly as major feature
| 269523 | Syndrome with a cerebellar malformation as major feature
| 269510 | Congenital non-communicating hydrocephalus
| 3454 | Intellectual disability-developmental delay-contractures syndrome
| 3455 | Wiedemann-Rautenstrauch syndrome
| 269505 | Congenital communicating hydrocephalus
| 269203 | Isolated cerebellar vermis agenesis
| 3438 | Biliary tract malformation-renal failure syndrome
| 269197 | Glioependymal/ependymal cyst
| 3434 | MMEP syndrome
| 269194 | Central nervous system cystic malformation
| 269215 | Isolated Dandy-Walker malformation without hydrocephalus
| 3446 | Weaver-like syndrome
| 269212 | Isolated Dandy-Walker malformation with hydrocephalus
| 269209 | Isolated partial cerebellar vermis agenesis
| 269206 | Isolated total cerebellar vermis agenesis
| 1856 | Spondyloperipheral dysplasia-short ulna syndrome

« Til de 100 forrige Til de 100 næste » 1 ... 30 31 32 33 34 35 36 ... 97

Handlinger tilknyttet webside

Send this