orphafolder

| 370927 | SSR4-CDG
| 370930 | XYLT1-CDG
| 370953 | Congenital muscular dystrophy due to dystroglycanopathy
| 370959 | Congenital muscular dystrophy with cerebellar involvement
| 370968 | Congenital muscular dystrophy with intellectual disability
| 370980 | Congenital muscular dystrophy without intellectual disability
| 370933 | GM3 synthase deficiency
| 370938 | Salt-and-pepper syndrome
| 370943 | Autism spectrum disorder-epilepsy-arthrogryposis syndrome
| 365563 | Primary short bowel syndrome
| 369929 | Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
| 369920 | Pontocerebellar hypoplasia type 9
| 369942 | CADDS
| 369939 | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
| 369955 | Methylmalonic acidemia with homocystinuria, type cblJ
| 369950 | Intellectual disability-seizures-macrocephaly-obesity syndrome
| 369970 | Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
| 369962 | Methylmalonic acidemia with homocystinuria, type cblX
| 369979 | Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
| 369992 | Severe dermatitis-multiple allergies-metabolic wasting syndrome
| 370002 | Focal palmoplantar keratoderma with joint keratoses
| 369999 | Diffuse palmoplantar keratoderma with painful fissures
| 370010 | Intellectual disability-facial dysmorphism-hand anomalies syndrome
| 370006 | Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome
| 369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
| 369840 | Autosomal recessive limb-girdle muscular dystrophy type 2S
| 369847 | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
| 369852 | Congenital neutropenia-myelofibrosis-nephromegaly syndrome
| 369861 | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
| 369867 | Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
| 369873 | Obesity due to SIM1 deficiency
| 369881 | 2p21 microdeletion syndrome without cystinuria
| 369886 | Homozygous 2p21 microdeletion syndrome
| 369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
| 369897 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
| 369913 | Combined oxidative phosphorylation defect type 17
| 364063 | Infantile epileptic-dyskinetic encephalopathy
| 364055 | Severe early-childhood-onset retinal dystrophy
| 364039 | Hydroa vacciniforme-like lymphoma
| 364043 | ALK-positive large B-cell lymphoma
| 364028 | X-linked intellectual disability due to GRIA3 mutations
| 364033 | Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
| 772 | Infantile Refsum disease
| 1194 | TMEM70-related mitochondrial encephalo-cardio-myopathy
| 363999 | Non-immune hydrops fetalis
| 364013 | Immune hydrops fetalis
| 1048 | Isolated anencephaly/exencephaly
| 363989 | Familial benign flecked retina
| 823 | Isolated spina bifida
| 363992 | Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
| 363976 | Giant cell tumor of bone
| 363981 | Charcot-Marie-Tooth disease type 4B3
| 363969 | Autosomal recessive cerebral atrophy
| 363972 | Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
| 363965 | Koolen-De Vries syndrome due to a point mutation
| 363958 | 17q21.31 microdeletion syndrome
| 363746 | Balint syndrome
| 363741 | Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
| 363727 | X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
| 363722 | Alexander disease type II
| 363717 | Alexander disease type I
| 363710 | Spinocerebellar ataxia type 37
| 363705 | Craniofaciofrontodigital syndrome
| 363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
| 363694 | Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
| 363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
| 363680 | 2p13.2 microdeletion syndrome
| 363677 | Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
| 364803 | Rare bone disease related to a common gene or pathway defect
| 364817 | Aggrecan-related bone disorder
| 364820 | TRPV4-related bone disorder
| 364574 | Acrofacial dysostosis
| 364571 | Dysostosis with limb and face anomalies as a major feature
| 364577 | Intellectual disability-brachydactyly-Pierre Robin syndrome
| 364559 | Dysostosis
| 364541 | Otopalatodigital syndrome spectrum disorder
| 364568 | Dysostosis with limb anomaly as a major feature
| 364526 | Primary bone dysplasia
| 364536 | Primary bone dysplasia with micromelia
| 364531 | Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
| 364198 | Bipartite talus
| 364195 | Resistance to bleomycine in the treatment of testicular cancer
| 363417 | Temtamy preaxial brachydactyly syndrome
| 363409 | Fetal akinesia-cerebral and retinal hemorrhage syndrome
| 363412 | Hypomyelination with brain stem and spinal cord involvement and leg spasticity
| 363429 | Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
| 363432 | Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
| 363424 | Multiple mitochondrial dysfunctions syndrome type 3
| 363314 | Genetic intestinal polyposis
| 363300 | Genetic intractable diarrhea of infancy
| 363306 | Genetic intestinal disease due to fat malabsorption
| 363396 | High myopia-sensorineural deafness syndrome
| 363400 | Severe neurodegenerative syndrome with lipodystrophy
| 363266 | Rare hereditary iron overload disease
| 363250 | Ciliopathy
| 363294 | Genetic syndromic Pierre Robin syndrome
| 363245 | Genetic progeroid syndrome
| 363203 | Ring chromosome
| 363189 | Congenital anomaly of the great veins
| 363618 | LMNA-related cardiocutaneous progeria syndrome

« Til de 100 forrige Til de 100 næste » 1 ... 45 46 47 48 49 50 51 ... 97

Handlinger tilknyttet webside

Send this