orphafolder

| 261112 | Monosomy 9p
| 261102 | Distal 7q11.23 microduplication syndrome
| 2576 | Mulibrey nanism
| 261236 | 16p13.11 microdeletion syndrome
| 261243 | 16p13.11 microduplication syndrome
| 2608 | N syndrome
| 261222 | Distal 16p11.2 microdeletion syndrome
| 1359 | Carney complex
| 2593 | Tubular aggregate myopathy
| 261229 | 14q11.2 microduplication syndrome
| 261204 | 16p11.2p12.2 microduplication syndrome
| 2590 | Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
| 261211 | 16p11.2p12.2 microdeletion syndrome
| 2589 | Myoclonus-cerebellar ataxia-deafness syndrome
| 261190 | 15q14 microdeletion syndrome
| 2588 | Myhre syndrome
| 261197 | Proximal 16p11.2 microdeletion syndrome
| 261295 | 20p12.3 microdeletion syndrome
| 261304 | Paternal 20q13.2q13.3 microdeletion syndrome
| 261279 | 17q23.1q23.2 microdeletion syndrome
| 261290 | Trisomy 17p
| 2617 | Microcephalic primordial dwarfism, Montreal type
| 261265 | 17q12 microdeletion syndrome
| 261272 | 17q12 microduplication syndrome
| 261250 | 16q24.3 microdeletion syndrome
| 2616 | 3M syndrome
| 261257 | Distal 17p13.3 microdeletion syndrome
| 2613 | Nail-patella-like renal disease
| 261344 | Trisomy 1q
| 261337 | Distal 22q11.2 microduplication syndrome
| 261476 | Xp21 microdeletion syndrome
| 261349 | 2p15p16.1 microdeletion syndrome
| 261318 | Trisomy 20p
| 261311 | 20q13.33 microdeletion syndrome
| 2623 | Geleophysic dysplasia
| 261330 | Distal 22q11.2 microdeletion syndrome
| 261323 | 21q22.11q22.12 microdeletion syndrome
| 261524 | Paternal uniparental disomy of chromosome X
| 2639 | Fibular aplasia-complex brachydactyly syndrome
| 261519 | Maternal uniparental disomy of chromosome X
| 2640 | Lethal short-limb dwarfism, McAlister-Crane type
| 261534 | 49,XXXYY syndrome
| 261529 | Ring chromosome Y syndrome
| 261494 | Kleefstra syndrome
| 2631 | Mesomelic dwarfism-cleft palate-camptodactyly syndrome
| 261483 | Xq27.3q28 duplication syndrome
| 2632 | Langer mesomelic dysplasia
| 2633 | Mesomelic dysplasia, Nievergelt type
| 261501 | Atypical Norrie disease due to monosomy Xp11.3
| 2634 | Mesomelic dwarfism, Reinhardt-Pfeiffer type
| 2646 | Parastremmatic dwarfism
| 261579 | Blepharophimosis-epicanthus inversus-ptosis due to copy number variations
| 2645 | Osteoglosphonic dysplasia
| 261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion
| 261600 | Alagille syndrome due to 20p12 microdeletion
| 261619 | Alagille syndrome due to a JAG1 point mutation
| 261537 | Mowat-Wilson syndrome due to monosomy 2q22
| 2643 | Microcephalic primordial dwarfism, Toriello type
| 261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation
| 261559 | Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome
| 261572 | Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
| 2636 | Microcephalic osteodysplastic primordial dwarfism types I and III
| 261697 | Anomaly of chromosome 1
| 2658 | Lenz-Majewski hyperostotic dwarfism
| 261700 | Anomaly of chromosome 2
| 261703 | Anomaly of chromosome 3
| 261706 | Anomaly of chromosome 4
| 261629 | Alagille syndrome due to a NOTCH2 point mutation
| 261638 | Okihiro syndrome due to 20q13 microdeletion
| 261647 | Okihiro syndrome due to a point mutation
| 2654 | Syndesmodysplasic dwarfism
| 261652 | Kleefstra syndrome due to a point mutation
| 264200 | 14q22q23 microdeletion syndrome
| 263798 | Y chromosomal anomaly
| 3059 | X-linked intellectual disability, Gu type
| 263793 | Uniparental disomy of chromosome X
| 263783 | Partial duplication of the long arm of chromosome X
| 3056 | X-linked intellectual disability, Brooks type
| 263775 | Partial duplication of the short arm of chromosome X
| 263768 | Partial duplication of chromosome X
| 3057 | Monoamine oxidase A deficiency
| 3055 | X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
| 263756 | Partial deletion of the long arm of chromosome X
| 263749 | X and Y chromosomal anomaly
| 263746 | Y chromosome number anomaly
| 3052 | X-linked intellectual disability-seizures-psoriasis syndrome
| 263731 | Partial monosomy of the short arm of chromosome X
| 263726 | Partial deletion of chromosome X
| 3047 | Blepharophimosis-intellectual disability syndrome, SBBYS type
| 263723 | Polysomy of X chromosome
| 263720 | X chromosome number anomaly with male phenotype
| 3044 | Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
| 263714 | X chromosome number anomaly
| 3042 | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
| 263717 | X chromosome number anomaly with female phenotype
| 3041 | Intellectual disability-balding-patella luxation-acromicria syndrome
| 263708 | Complex chromosomal rearrangement
| 263711 | X chromosome anomaly
| 3038 | Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
| 263665 | NK-cell enteropathy

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