orphafolder

| 3123 | Brittle hair syndrome, Sabinas type
| 262869 | Partial trisomy of the long arm of chromosome 5
| 262767 | Partial trisomy of the short arm of chromosome 9
| 3112 | Patella aplasia-coxa vara-tarsal synostosis syndrome
| 262776 | Partial duplication of the short arm of chromosome 10
| 2909 | Rothmund-Thomson syndrome
| 262749 | Partial duplication of the short arm of chromosome 7
| 3110 | Rombo syndrome
| 262758 | Partial duplication of the short arm of chromosome 8
| 262803 | Partial duplication of the short arm of chromosome 17
| 431 | Ichthyosis-male hypogonadism syndrome
| 262812 | Partial trisomy/tetrasomy of the short arm of chromosome 18
| 3115 | Roussy-Lévy syndrome
| 262785 | Partial duplication of the short arm of chromosome 11
| 262794 | Partial duplication of the short arm of chromosome 16
| 3101 | Richieri Costa-da Silva syndrome
| 262687 | Partial duplication of chromosome 19
| 3102 | Richieri Costa-Pereira syndrome
| 262682 | Partial trisomy/tetrasomy of chromosome 18
| 3104 | Robin sequence-oligodactyly syndrome
| 262698 | Partial duplication of the short arm of chromosome 2
| 3105 | Robinow-like syndrome
| 262692 | Partial trisomy of chromosome 20
| 3106 | Robinow-Sorauf syndrome
| 262716 | Partial duplication of the short arm of chromosome 4
| 262707 | Partial duplication of the short arm of chromosome 3
| 3107 | Autosomal dominant Robinow syndrome
| 262740 | Partial duplication of the short arm of chromosome 6
| 262725 | Partial trisomy/tetrasomy of the short arm of chromosome 5
| 3109 | Mayer-Rokitansky-Küster-Hauser syndrome
| 262643 | Partial trisomy/tetrasomy of chromosome 9
| 262638 | Partial duplication of chromosome 8
| 3086 | Autosomal dominant vitreoretinochoroidopathy
| 3087 | Retinohepatoendocrinologic syndrome
| 262653 | Partial duplication of chromosome 11
| 3088 | Revesz syndrome
| 262648 | Partial duplication of chromosome 10
| 3090 | Congenital pulmonary venous return anomaly
| 262658 | Partial trisomy/tetrasomy of the short arm of chromosome 12
| 3097 | Meacham syndrome
| 3098 | Rhizomelic syndrome, Urbach type
| 262677 | Partial duplication of chromosome 17
| 262672 | Partial duplication of chromosome 16
| 262182 | Partial deletion of the long arm of chromosome 22
| 262191 | Partial duplication of chromosome 1
| 262196 | Partial duplication of chromosome 2
| 262201 | Partial duplication of chromosome 3
| 3078 | Severe X-linked intellectual disability, Gustavson type
| 262206 | Partial duplication of chromosome 4
| 3077 | X-linked intellectual disability-psychosis-macroorchidism syndrome
| 262211 | Partial trisomy/tetrasomy of chromosome 5
| 262628 | Partial duplication of chromosome 6
| 3080 | Intellectual disability, Wolff type
| 262633 | Partial duplication of chromosome 7
| 3079 | Intellectual disability, Buenos-Aires type
| 262110 | Partial deletion of the long arm of chromosome 14
| 3063 | X-linked intellectual disability, Snyder type
| 262119 | Partial deletion of the long arm of chromosome 15
| 262128 | Partial deletion of the long arm of chromosome 16
| 3065 | X-linked intellectual disability-monoamine oxidase A metabolism anomaly syndrome
| 262137 | Partial deletion of the long arm of chromosome 17
| 262146 | Partial deletion of the long arm of chromosome 18
| 3068 | Intellectual disability-myopathy-short stature-endocrine defect syndrome
| 262155 | Partial deletion of the long arm of chromosome 19
| 262164 | Partial deletion of the long arm of chromosome 20
| 262173 | Partial deletion of the long arm of chromosome 21
| 268843 | Malformation of the neurenteric canal, spinal cord and column
| 2886 | TARP syndrome
| 268861 | Primary tethered cord syndrome
| 2885 | Piebald trait-neurologic defects syndrome
| 268838 | Leptomyelolipoma
| 2884 | Piebaldism
| 2881 | Cutaneous photosensitivity-lethal colitis syndrome
| 268832 | Lipoma associated with neurospinal dysraphism
| 2879 | Phocomelia, Schinzel type
| 268835 | Lipomyelomeningocele
| 2878 | Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
| 268826 | Parietal encephalocele
| 268829 | Basal encephalocele
| 2895 | Pinsky-Di George-Harley syndrome
| 268920 | Isolated megalencephaly
| 268882 | Arnold-Chiari malformation type I
| 2892 | Pilodental dysplasia-refractive errors syndrome
| 2891 | Pili torti-developmental delay-neurological abnormalities syndrome
| 2889 | Pili torti
| 2890 | Pili torti-onychodysplasia syndrome
| 268865 | Neurenteric cyst
| 2888 | Pierre Robin syndrome-faciodigital anomaly syndrome
| 268868 | Isolated amyelia
| 268770 | Upper thoracic spina bifida cystica
| 2865 | Short stature-webbed neck-heart disease syndrome
| 2866 | Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
| 268766 | Cervicothoracic spina bifida cystica
| 2863 | Short stature-wormian bones-dextrocardia syndrome
| 268762 | Cervical spina bifida cystica
| 268758 | Lumbosacral spina bifida cystica
| 268752 | Thoracolumbosacral spina bifida cystica
| 268748 | Total spina bifida cystica
| 268744 | Spina bifida cystica
| 268740 | Upper thoracic spina bifida aperta

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