orphafolder

| 2500 | Acrogeria
| 261733 | Anomaly of chromosome 12
| 2501 | Metaphyseal chondrodysplasia, Spahr type
| 261754 | Anomaly of chromosome 19
| 2506 | Michels syndrome
| 261751 | Anomaly of chromosome 18
| 261748 | Anomaly of chromosome 17
| 2504 | Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
| 261745 | Anomaly of chromosome 16
| 2505 | Multiple benign circumferential skin creases on limbs
| 261763 | Anomaly of chromosome 22
| 2511 | Microbrachycephaly-ptosis-cleft lip syndrome
| 261766 | Partial deletion of chromosome 1
| 2510 | Micro syndrome
| 261757 | Anomaly of chromosome 20
| 261760 | Anomaly of chromosome 21
| 2508 | Corpus callosum agenesis-abnormal genitalia syndrome
| 261781 | Partial deletion of chromosome 4
| 2516 | Microcephaly-cardiac defect-lung malsegmentation syndrome
| 261786 | Partial deletion of chromosome 5
| 2515 | Microcephaly-cardiomyopathy syndrome
| 261771 | Partial deletion of chromosome 2
| 2514 | Autosomal dominant primary microcephaly
| 261776 | Partial deletion of chromosome 3
| 2513 | Microcephaly-albinism-digital anomalies syndrome
| 261801 | Partial deletion of chromosome 8
| 2521 | Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
| 261806 | Partial deletion of chromosome 9
| 261791 | Partial deletion of chromosome 6
| 2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome
| 261796 | Partial deletion of chromosome 7
| 261821 | Partial deletion of the long arm of chromosome 12
| 2524 | Pontocerebellar hypoplasia type 2
| 261826 | Partial deletion of chromosome 16
| 261811 | Partial deletion of chromosome 10
| 2523 | Microcephaly-brain defect-spasticity-hypernatremia syndrome
| 261816 | Partial deletion of chromosome 11
| 2522 | Microcephaly-cervical spine fusion anomalies syndrome
| 261836 | Partial deletion of chromosome 18
| 2526 | Microcephaly-lymphedema-chorioretinopathy syndrome
| 261831 | Partial deletion of chromosome 17
| 261846 | Partial deletion of chromosome 20
| 2528 | Microcephaly-microcornea syndrome, Seemanova type
| 261841 | Partial deletion of chromosome 19
| 261866 | Partial deletion of the short arm of chromosome 2
| 261857 | Partial deletion of the short arm of chromosome 1
| 261884 | Partial deletion of the short arm of chromosome 4
| 2533 | Microcephaly-deafness-intellectual disability syndrome
| 261875 | Partial deletion of the short arm of chromosome 3
| 2535 | Microcornea-corectopia-macular hypoplasia syndrome
| 261902 | Partial deletion of the short arm of chromosome 6
| 2536 | Microcornea-glaucoma-absent frontal sinuses syndrome
| 261893 | Partial deletion of the short arm of chromosome 5
| 261920 | Partial deletion of the short arm of chromosome 8
| 261911 | Partial deletion of the short arm of chromosome 7
| 261938 | Partial deletion of the short arm of chromosome 10
| 261929 | Partial deletion of the short arm of chromosome 9
| 261956 | Partial deletion of the short arm of chromosome 16
| 261947 | Partial deletion of the short arm of chromosome 11
| 261965 | Partial monosomy of the short arm of chromosome 17
| 2549 | Oculoauriculovertebral spectrum with radial defects
| 261974 | Partial deletion of the short arm of chromosome 18
| 261983 | Partial deletion of the short arm of chromosome 19
| 2551 | Microspherophakia-metaphyseal dysplasia syndrome
| 261992 | Partial monosomy of the short arm of chromosome 20
| 262001 | Partial deletion of the long arm of chromosome 1
| 2554 | Ear-patella-short stature syndrome
| 262010 | Partial deletion of the long arm of chromosome 2
| 262019 | Partial deletion of the long arm of chromosome 3
| 2556 | Microphthalmia with linear skin defects syndrome
| 262029 | Partial deletion of the long arm of chromosome 4
| 262038 | Partial deletion of the long arm of chromosome 5
| 2558 | Mikati-Najjar-Sahli syndrome
| 262047 | Partial deletion of the long arm of chromosome 6
| 2557 | Mietens syndrome
| 262056 | Partial deletion of the long arm of chromosome 7
| 2561 | Pyramidal molars-abnormal upper lip syndrome
| 262065 | Partial deletion of the long arm of chromosome 8
| 2560 | Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
| 2564 | Tetramelic monodactyly
| 262074 | Partial monosomy of the long arm of chromosome 9
| 262083 | Partial monosomy of the long arm of chromosome 10
| 2563 | MOMO syndrome
| 262092 | Partial deletion of the long arm of chromosome 11
| 262101 | Partial deletion of the long arm of chromosome 13
| 2565 | Mononen-Karnes-Senac syndrome
| 2574 | Moynahan syndrome
| 575 | Muckle-Wells syndrome
| 2572 | Spastic ataxia-corneal dystrophy syndrome
| 2573 | Moyamoya disease
| 2570 | Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
| 2571 | X-linked immunoneurologic disorder
| 2569 | Moore-Federman syndrome
| 261183 | 15q11.2 microdeletion syndrome
| 2585 | Ataxia-pancytopenia syndrome
| 261144 | 14q12 microdeletion syndrome
| 2580 | Shoulder and girdle defects-familial intellectual disability syndrome
| 261120 | 14q11.2 microdeletion syndrome
| 2578 | Mayer-Rokitansky-Küster-Hauser syndrome type 2
| 2579 | Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

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