orphafolder

| 459056 | Autosomal recessive spastic paraplegia type 75
| 459074 | Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
| 459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
| 458718 | Idiopathic spontaneous coronary artery dissection
| 458758 | Composite hemangioendothelioma
| 458763 | Retiform hemangioendothelioma
| 458768 | Primary intralymphatic angioendothelioma
| 458775 | Congenital hemangioma
| 458785 | Partially involuting congenital hemangioma
| 458792 | Mixed cystic lymphatic malformation
| 458798 | Spinocerebellar ataxia type 41
| 458803 | Spinocerebellar ataxia type 42
| 458827 | Vascular tumor with associated anomalies
| 458830 | Rare capillary malformation with associated anomalies
| 457485 | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
| 457265 | Progressive myoclonic epilepsy type 9
| 457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
| 457252 | Squamous cell carcinoma of the oral tongue
| 457260 | X-linked intellectual disability-hypotonia-movement disorder syndrome
| 457240 | X-linked intellectual disability-short stature-overweight syndrome
| 457246 | Clear cell sarcoma of kidney
| 457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
| 457406 | Multiple mitochondrial dysfunctions syndrome type 4
| 457375 | ITPA-related encephalopathy
| 457378 | Complex lethal osteochondrodysplasia
| 457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
| 457365 | Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
| 457284 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
| 457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
| 457185 | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
| 457083 | Isolated splenogonadal fusion
| 457077 | TAFRO syndrome
| 457095 | Actinomycosis
| 457088 | Predisposition to invasive fungal disease due to CARD9 deficiency
| 457223 | Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
| 457212 | Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
| 457193 | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
| 457205 | Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
| 456369 | Polyglucosan body myopathy type 2
| 457059 | Pseudohypoparathyroidism with Albright hereditary osteodystrophy
| 457062 | Pseudohypoparathyroidism without Albright hereditary osteodystrophy
| 457074 | Congenital nemaline myopathy
| 457050 | Autosomal dominant mitochondrial myopathy with exercise intolerance
| 466677 | Scorpion envenomation
| 466682 | Euthyroid Graves orbitopathy
| 466688 | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
| 466695 | Supratip dysplasia
| 466658 | Rare disease with malignant hyperthermia
| 466670 | Cyanide poisoning
| 466650 | Exercise-induced malignant hyperthermia
| 466962 | SMARCA4-deficient sarcoma of thorax
| 466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
| 466943 | WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
| 466926 | Seizures-scoliosis-macrocephaly syndrome
| 466934 | VPS11-related autosomal recessive hypomyelinating leukodystrophy
| 466921 | Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
| 466806 | Autosomal dominant thrombocytopenia with platelet secretion defect
| 466801 | Autosomal recessive limb-girdle muscular dystrophy type 2W
| 466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
| 466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome
| 466784 | Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
| 466775 | Autosomal recessive Charcot-Marie-Tooth disease type 2X
| 466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z
| 466729 | Familial patent arterial duct
| 466722 | Autosomal recessive spastic paraplegia type 77
| 466718 | Martinique crinkled retinal pigment epitheliopathy
| 466703 | TMEM199-CDG
| 465824 | Fetal encasement syndrome
| 466084 | Genetic otorhinolaryngologic disease
| 466066 | Genetic hemoglobinopathy
| 466026 | Class I glucose-6-phosphate dehydrogenase deficiency
| 468620 | Intellectual disability-epilepsy-extrapyramidal syndrome
| 468631 | Microcephalic primordial dwarfism due to RTTN deficiency
| 467166 | Tubulinopathy-associated dysgyria
| 467176 | Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
| 468635 | Cryptogenic multifocal ulcerous stenosing enteritis
| 468641 | Chronic enteropathy associated with SLCO2A1 gene
| 468661 | Autosomal recessive spastic paraplegia type 74
| 468666 | Isolated generalized anhidrosis with normal sweat glands
| 468678 | Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
| 468684 | CCDC115-CDG
| 468672 | Colobomatous macrophthalmia-microcornea syndrome
| 468726 | Severe primary trimethylaminuria
| 468699 | SLC39A8-CDG
| 468717 | Rhizomelic chondrodysplasia punctata type 5
| 411527 | Central retinal vein occlusion
| 411536 | Mild phosphoribosylpyrophosphate synthetase superactivity
| 411543 | Severe phosphoribosylpyrophosphate synthetase superactivity
| 411590 | Wolfram-like syndrome
| 411593 | Insulin autoimmune syndrome
| 411602 | Hereditary late-onset Parkinson disease
| 411629 | Nephropathic infantile cystinosis
| 411493 | Pontocerebellar hypoplasia type 10
| 411501 | Williams-Campbell syndrome
| 411511 | Angelman syndrome due to a point mutation
| 411515 | Angelman syndrome due to imprinting defect in 15q11-q13
| 411777 | Generalized eruptive keratoacanthoma
| 411712 | Maternal riboflavin deficiency
| 411788 | Familial isolated trichomegaly
| 411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome

« Til de 100 forrige Til de 100 næste » 1 ... 86 87 88 89 90 91 92 ... 97

Handlinger tilknyttet webside

Send this