- Select Disease - (664)
10p Deletion Syndrome (1)
12p13.32 deletion (1)
16q24.3 microdeletion syndrome (2)
17q12 microduplication syndrome (1)
17q21.33 deletion, Osteogenesis Imperfecta (1)
19q 12-13.31 Duplication (2)
1p36 deletion syndrome (3)
1q21.1 microdeletion syndrome (1)
1q41q42.12 microdeletion (1)
2p25.3 Deletion & 10q26.1 Duplication (1)
4Q Deletion 32.1-Terminal (1)
9q33.3q34.11 microdeletion syndrome (1)
9q34 Duplication syndrome and 10q24 deletion syndrome. (1)
Abetalipoproteinemia (1)
Abetalipoproteinemia/ Undiagnosed (1)
ACER3-related early childhood-onset progressive Leukodystrophy (1)
Achalasia cardia (3)
Acrodermatitis enteropathica (1)
Acromegaly (4)
Acute disseminated encephalomyelitis (1)
Acute intermittent porphyria (3)
Acute Necrotizing Encephalopathy (1)
Acute necrotizing encephalopathy of childhood (1)
ADCA, Autosomal dominant cerebellar ataxia (1)
Addison disease (2)
Addison's Disease (2)
Addison's Disease (Primary Adrenal Insufficiency) (1)
Adducted thumb-clubfoot syndrome (1)
ADEM (2)
Adenosine Kinase Deficiency (1)
Adhesive arachnoiditis & Tarlov cyst disease (1)
ADNP Syndrome / Helsmoortel-VanDerAa Syndrome (1)
ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder (1)
ADNP-related syndromic intellectual disability-autism spectrum disorder (1)
Adrenal insufficiency-achalasia-alacrima syndrome (1)
Adrenomyeloneuropathy (2)
Adult cardiac tumor (1)
Adult-onset Still disease (1)
Afibrinogenemia (2)
Agammaglobulinemia (2)
Agenesis of the corpus callosum (1)
Aicardi syndrome (2)
Aicardi-Goutières syndrome (1)
AL Amyloidosis (3)
Alagille syndrome (2)
Alexander disease (1)
Alkaptonuria (4)
Alloimmunization, Hemolytic Disease of the Fetus and Newborn (HDFN) (1)
Alopecia (1)
Alpha-1-antitrypsin deficiency (3)
Alport syndrome (1)
Alstrom Syndrome (1)
Alternating hemiplegia of childhood (1)
Amyliodosis Al (1)
Amylodosis (1)
Amyloidosis (1)
Amyloidosis FMF, (1)
Amyotrophic lateral sclerosis (1)
Amyotrophic lateral sclerosis (ALS) (1)
ANCA Associated with Vasculitis, PGA, Anti-neutrophil cytoplasmic antibody-associated vasculitis (1)
ANCA Vasculitis (1)
ANCA-associated vasculitis / GBM (1)
ANE (1)
Aneuploidia variabile mosaico (1)
Angelman syndrome due to paternal uniparental disomy of chromosome 15 (1)
Aniridia (2)
Antiphospholipid (1)
Antiphospholipid Syndrome, Thrombocytopenia (1)
APS type 1, APECED (1)
Arachnoiditis (3)
Argininemia (1)
Arthogryposis Multiplex Congenita (1)
Arthrogryposis multiplex congenita (1)
Arthrogryposis syndrome (1)
Aspergillosis (1)
Ataxia (2)
Ataxia neuropathy spectrum (1)
Ataxia with occulomotor apraxia (1)
Ataxia-telangiectasia (2)
Attenuated familial adenomatous polyposis (1)
Atypical hemolytic uremic syndrome (aHUS) (1)
Atypical hemolytic-uremic syndrome with anti-factor H antibodies (1)
Autoimmune enteropathy (1)
Autoimmune hepatitis (5)
Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome (1)
Autoimmune neutropenia (1)
Autoimmune polyendocrine syndrome type 1 (2)
Autosomal Dominant Retinal Dystrophy (1)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (1)
Avascular necrosis (3)
Bainbridge Ropers Syndrome (1)
Bannayan-Riley-Ruvalcaba syndrome (1)
Barth Syndrome (1)
Bartter syndrome (2)
Bartter syndrome type 2 (1)
Bartter syndrome type 3 (1)
BBS (1)
Behçet disease (11)
Behçet disease and Addisons Disease (1)
Behçet's Disease (2)
Beta-thalassemia (1)
BH4 Deficiency (2)
Bile acid synthesis defect with cholestasis and malabsorption (1)
Biliary atresia (3)
Biotinidase deficiency (1)
Bladder exstrophy (1)
Bladder exstrophy-epispadias-cloacal extrophy complex (1)
Blepharospasm-oromandibular dystonia syndrome (1)
Bohring-Opitz syndrome (1)
Brain Basilar & Vertebrobasilar Mega-Dolicho-Ectasia (1)
Brain-lung-thyroid syndrome, interstitial lung disease, Nkx2.1 (1)
Branchio-oto renal syndrome (1)
Branchio-oto-renal Sydrome (1)
Bronchiolitis Obliterans (1)
Brooke-Spiegler syndrome (1)
Brucellosis (1)
CACNA1C disorder, epilepsy, low muscle tone, chronic pulmonary disorder, long QT syndrome (1)
CADASIL (1)
Camurati-Engelmann disease (1)
CANVAS (1)
Carcinoid syndrome (1)
Carnitine palmitoyl transferase deficiency type 2, neonatal form (1)
Caroli disease (2)
Catecholamine-producing tumor (1)
Cavernoma (1)
Cavernous Angioma (3)
Cavernous Angioma of the brain - CCM1 gene positive (1)
Cavernous Angiomas (2)
Cavernous lymphangioma (1)
CCHS (1)
Cd4+ tcell lymphoroliterative lymphoma (1)
CDKL5 (1)
CDKL5 Deficiency Disorder (1)
Center Nerve Pain Stroke (1)
Central diabetes insipidus (1)
Central Pain Syndrome, Cavernous Malformations (2)
Cerebral arteriovenus malformation (1)
Cerebral malformation, Cerebral Cavernous Angioma (1)
Champ 1 Gene Mutation (1)
CHAMP1 (2)
CHAMP1 gene mutation (1)
Champ1 mutation (1)
Charcot-Marie-Tooth disease (2)
Charcot-Marie-Tooth disease type 1 (1)
Charcot-Marie-Tooth disease type 1A (2)
CHARGE syndrome (1)
Chiari malformation type (1)
Chiari malformation type 1 (1)
Chiari malformation type II (1)
Chiari, Ehlers Danlos, POTS, Lupus (1)
Choledochal cyst (1)
Cholesteryl ester storage disease (1)
CHOPS syndrome (1)
Choroiditis (1)
Christianson syndrome (2)
Chronic hiccup (1)
Chronic inflammatory demyelinating polyneuropathy (4)
Chronic intestinal failure, Short bowel syndrome. (1)
Chronic intestinal pseudoobstruction (1)
Chronic myeloid leukemia (3)
Chronic pneumonia, chronic anemia, Lupus (1)
Chronic Q fever (1)
Chronic recurrent multifocal osteomyelitis (1)
Chronic thromboembolic pulmonary hypertension (1)
Chylomicron retention disease (1)
CIDP (2)
Cloacal exstrophy (1)
CLOVES Syndrome (2)
CMT4J (1)
Coffin Siris Syndrome (1)
Cohen Syndrome (1)
Cold Urticaria (1)
Combined oxidative phosphorylation defect, a genesis of the corpus callosities, aicardi syndrome (1)
Combined pituitary hormone deficiencies, genetic forms (1)
Common Variable Immune Deficiency (1)
Common variable immunodeficiency (4)
Common variable immunodeficiency, epilepsy, calcium deposits on brain, decreased white matter, rheumatoid idiopathic arthritis, von willebrand disease (1)
Complex hereditary spastic paraplegia (1)
Complex regional pain syndrome (14)
Complex Regional Pain Syndrome (CRPS) (1)
Complex regional pain syndrome type 1 (1)
Complex regional pain syndrome type 2 (1)
Complex regional pain syndrome type 2 (CRPS2) (1)
Complex vascular malformation with associated anomalies (2)
Congenital adrenal hyperplasia (4)
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (1)
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (1)
Congenital diaphragmatic hernia (2)
Congenital factor V deficiency (1)
Congenital muscular dystrophy, Ullrich type (1)
Congenital myasthenic syndrome (1)
Congenital myopathy with myasthenic-like onset (1)
Congenital pulmonary lymphangiectasia (1)
Congenital sucrase - Iiomaltase deficiency (1)
Congenital sucrase-isomaltase deficiency (2)
Connectivity and LES, Lupus (1)
Corneal Neuralgia (1)
Cornelia de Lange syndrome (1)
Cowden syndrome (2)
Creatine transporter deficiency (1)
CREST syndrome (2)
Creutzfeldt-Jakob Disease (1)
Cri du chat syndrome (1)
Crigler-Najjar syndrome (2)
Crouzon disease (2)
CRPS (2)
Cryoglobulinemic vasculitis (1)
Cryopyrin-associated periodic syndrome (1)
CTNNB1 Syndrome (1)
Cushing disease (3)
Cushing's Disease (1)
Cutis Marmorata Telangiectatica Congenita (2)
CVID (7)
CYLD Cutaneous Syndrome (1)
Cystic Angiomatosis (3)
Cystic fibrosis (7)
Cystic hygroma (1)
Cystinosis (2)
Dandy-Walker Syndrome (1)
DDX3X (2)
DDX3X mutation syndrome (1)
Defeating Duane syndrome (1)
Defective prmt7 (1)
Degos disease (1)
Deletion and Duplication 13q (1)
Deletion of 2P25.13 (1)
Dercum disease (1)
Dercum disease, Ehlers-Danlos Syndrome, MCAS, Cushing’s Syndrome, Addison’s (1)
Dermatomyositis (5)
Desbuquois dysplasia (1)
Desbuquois syndrome (2)
Desmoid tumor (1)
Desmoid type fibromatosis (1)
Diabetes Insipidus (1)
Diffuse cutaneous systemic sclerosis (1)
Dilated cardiomyopathy (1)
Disorder of bile acid synthesis, with cholestasis and malabsorption (1)
Disorder of urea cycle metabolism and ammonia detoxification (1)
DMD (1)
Doença de POMPE (1)
Donnai-Barrow syndrome (2)
Dopa-responsive dystonia (DRD) (1)
DREPANOCYTOSE (1)
DRESS syndrome (1)
DTDS (SLC6A3) (1)
Duchenne muscular dystrophy (9)
DYRK1A-related intellectual disability syndrome (1)
Dysgerminoma (1)
Dystonia-plus syndrome (1)
Dystrophic Epidermolysis Bullosa (1)
Eagle Syndrome (1)
Eastern equine encephalitis (1)
ECHS1 Deficiency - Mitochondrial Disease (1)
EDS, Scheuermanns, BlueRubber Bleb Syndrome (1)
EEC syndrome (1)
EGPA (1)
EGPA, Congenital myasthenic syndrome (1)
Ehlers danlos syndrome, fibromyalgia, Psoratic arthritis (1)
Ehlers Danlos Syndrome, MCAS (1)
Ehlers Danlos, vascular type (1)
Ehlers-Danlos syndrome (18)
Ehlers-Danlos syndrome hypermobility type (2)
Ehlers-Danlos syndrome type 3 (6)
Ehlers-Danlos syndrome type 3, immunodeficiency, mast cell activation syndrome "undiagnosed", craniocervical instability "undiagnosed" (1)
Ehlers-Danlos syndrome type 4 (2)
Ehlers-Danlos syndrome, Hereditary Angioedema (1)
Ehlers-Danlos syndrome, hypermobile type (3)
Ehlers-Danlos syndrome, kyphoscoliotic type (1)
Ehlersdanlos Sindromerome type III, Pots, Orticaria (1)
Ehler’s Danlos, Chiari Malformation, CCI (1)
Eosinophilic esophagitis (9)
Eosinophilic fasciitis (1)
Eosinophilic gastroenteritis (3)
Epidermolysis bullosa dystrophica (4)
Episodic ataxia type 2 (1)
Epispadias (1)
Epithelioid hemangioendothelioma (1)
Erythropoietic protoporphyria (1)
Esclerosis múltiple (1)
Esophageal atresia (1)
Esophageal Cicatricial Pemphigoid, Bullous pemphigoid (1)
Essential thrombocythemia (2)
Essential thrombocythemia & Myelofibrosis (1)
Ewing’s sarcoma (1)
Fabry disease (2)
Facial Infiltrating Lipomatosis (1)
Facioscapulohumeral dystrophy (1)
Factor five v laiden, chari malformation and epilepsy (1)
Familial adenomatous polyposis (4)
Familial cold autoinflammatory syndrome type 2 (1)
Familial glucocorticoid deficiency (1)
Familial Mediterranean fever (2)
Familial papillary (1)
Familial partial lipodystrophy, Dunnigan type (1)
Fanconi anemia (1)
FCAS2 (1)
Feingold syndrome (1)
FG syndrome type 1 (3)
Fibrodysplasia ossificans progressiva (5)
Fibrodysplasia ossificans progressiva (FOP) (1)
Fibrolamellar hepatocellular carcinoma (1)
Fibrosing mediastinitis (1)
Fibrous Dysplasia (1)
FMD fibromuscular dysplasia (1)
FMF (Familial Mediterranean Fever),AA-Amyloidose,u.a. (1)
FOSMN syndrome (2)
FOXP1 Syndrome (1)
FPIES and Spontaneous hyperthermia (1)
Friedreich ataxia (3)
FSHD (2)
Galactosemia (2)
Galactosemia type 1 (2)
Gardner syndrome (1)
Gastrointestinal Stromal tumor and (1)
Gastroparesis (1)
Gastroschisis (1)
Gata 2 deficiency (1)
Gaucher Disease (1)
Gauchers type 3 (1)
GBS (1)
Geleophysic dysplasia (1)
Giant cell hepatitis. Interstitial lung disease. Autoimmune haemolytic anaemia. (1)
Giant cell tumor of bone (1)
Gigantomastia (1)
Gitelman Syndrome (1)
Glutaric Acidemia type II (1)
Glycogen storage disease (2)
Glycogen storage disease type 1a (1)
Glycogen storage disease type 1b (1)
Glycogen storage disease type 9b (1)
GM1 Gangliosidosis (1)
GM3 Synthase Deficiency (1)
GNB1 (3)
GNE myopathy (2)
Goldberg-Shprintzen megacolon syndrome (1)
Gorham-Stout disease (1)
GPA (2)
Granulomatosis with polyangiitis (2)
Guillain-Barré syndrome (11)
Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form (1)
Guillian Barre Syndrome/ CIDP/ Sjogren's Syndrome/Systemic Lupus Erythematosus (1)
HATTR Hereditary Amyloidosis (1)
HEDS (1)
Hemicrania continua (1)
Hemochromatosis due to defect in ferroportin (1)
Hemophilia (2)
Hemophilia A (1)
Hereditary alpha tryptasemia (1)
Hereditary amyloidosis (1)
Hereditary angioedema type 3 (3)
Hereditary fructose intolerance (2)
Hereditary pulmonary arterial hypertension (1)
Hereditary spastic paraparesis (1)
Hereditary spastic paraplegia (2)
Hereditary spastic paraplegia, MAP2 Variant (1)
Herniation of the subarachnoid csf space with consequent partial empty sella, csf hypertension, csf leak, superior semicircular canal dehiscience right ear, vestibular loss (1)
HHT, Hereditary hemorrhagic telangiectasia (1)
Hirschsprung disease (11)
Hirschsprung's disease (1)
HIVEP2 (1)
HIVEP2 disorder (1)
HNPP (1)
Holt-Oram syndrome (1)
Homocystinuria due to cystathionine beta-synthase deficiency (1)
HSAN1E (1)
Huntington Chorea (1)
Huntington disease (4)
Hydrocephaly-cerebellar agenesis syndrome (1)
Hyperekplexia (1)
Hypereosonophilic Syndrome (HES) (1)
Hypertrophic Cardiomyopathy (1)
Hypocalcemic (1)
Hypogonadotropic hypogonadism associated with other endocrinopathies (1)
Hypohidrotic Ectodermal Dysplasia (HED) (1)
Hypoparathyroid (1)
Hypoparathyroidism (6)
Hypophosphatasia (1)
Hypopituitarism, Growth Hormone Deficiency and Pituitary Macroadenoma ( Large Mass) (1)
Hypotonia-speech impairment-severe cognitive delay syndrome (1)
Ichthyosis (1)
Idiopathic CD4 lymphocytopenia (1)
Idiopathic granulomatous lobular mastitis (1)
Idiopathic intracranial hypertension (12)
Idiopathic ketotic hypoglycemia (1)
Idiopathic NBIA Disorder, Neurodegeneration with brain iron accumulation (1)
Idiopathic pulmonary arterial hypertension (1)
Idiopathic pulmonary fibrosis (2)
Idiopathic pulmonary hemosiderosis (1)
Idiopathic Subglottic Stenosis (8)
Idiopathic syringomyelia (1)
IgG4-related disease (2)
IgG4-related pancreatitis (1)
Immune thrombocytopenia (ITP) (1)
Imperforate Anus (1)
Incontinentia pigmenti (1)
Infantile dystonia-parkinsonism (1)
Infantile inset ascending hereditary spastic paraplegia (1)
Infantile neuroaxonal dystrophy (3)
Interstitial cystitis (2)
Interstitial cystitis/painful bladder syndrome (2)
Interstitial lung disease (1)
Interstitial lung disease specific to childhood (2)
Inthrahepatic cholestasis of pregnancy (1)
Intrahepatic cholestasis of pregnancy (12)
Intrahepatic cholestasis of pregnancy - ICP (1)
Intralobar congenital pulmonary sequestration (1)
Isaac syndrome (3)
Isolated Klippel-Feil syndrome (1)
Isovaleric acidemia (1)
ITP, Immune thrombocytopenic purpura (1)
Jacobsen syndrome (1)
Jejunal atresia (1)
Jeune syndrome (1)
Juvenile Batten Disease, Batten Disease (1)
Juvenile dermatomyositis, JDM (1)
Juvenile Polymyositis (1)
Juvenile Spondyloarthropathy Arthritis, Amplified Musculoskeletal Pain Syndrome (1)
Kallmann syndrome (4)
KCNQ2-related epileptic encephalopathy (1)
Kcnt1 (1)
Kleefstra syndrome (4)
Kleefstra syndrome due to 9q34 microdeletion (1)
Kleine-Levin syndrome (1)
Klippel feil syndrome (1)
Klippel-Feil malformation (1)
Klippel-Feil syndrome, Holoprosencephaly, pulmonary fibrosis (1)
Klippel-Trénaunay-Weber syndrome (2)
Koolen-De Vries syndrome (1)
Lafora disease (1)
Lamb-Shaffer syndrome (2)
Lambert-Eaton myasthenic syndrome (2)
Landua Kleffner Syndrome (1)
Langerhans cell histiocytosis (2)
Langerhans cell histiocytosis specific to adulthood (1)
Large congenital melanocytic nevus (2)
Late-onset Isolated Sulfite Oxidase Deficiency (1)
Laurin-Sandrow syndrome (1)
Leber congenital amaurosis (LCA) (1)
Ledderhose disease (4)
Legg-Calvé-Perthes disease (1)
Legius syndrome (1)
Leiomyosarcoma (1)
Leiomyosarcoma of the corpus uteri (1)
Lennox gastaut syndrome (1)
LEPR (1)
Leukodystrophy (1)
Leukodystrophy and Epilepsy (1)
Leukodystrophy, Vanishing White Matter Disease (1)
Leukoencephalopathy with vanishing white matter (1)
Li-Fraumeni Syndrome (1)
Lichen (1)
Lichen Sclerosus (1)
Limb Girdle Muscular Dystrophy vs. Inclusion Body Myositis and Temporal Lobe Epilepsy (1)
Limb-girdle muscular dystrophy (2)
Limbic encephalitis with LGI1 antibodies (1)
Linear iga and hypermobility syndrome (1)
Lissencephaly (2)
LMNA-related congenital muscular dystrophy (1)
Long QT Type 5 (1)
Lowe syndrome (1)
Lupus (4)
Lupus erythematosus panniculitis (1)
Lupus erythematosus tumidus (1)
Lyme disease (1)
Lymphangioleiomyomatosis (3)
Lymphatic Malformation (1)
Léri-Weill dyschondrosteosis, cerebral palsy, Foetal alcohol syndrome (1)
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (1)
Macrodactyly of foot (3)
Madelung deformity, bilateral (1)
Mal de débarquement (1)
Malignant migrating partial epilepsy of infancy (1)
Maple syrup urine disease (1)
Marfan syndrome (2)
Mast cell activation disorder (1)
Mast cell disease (2)
Mast cell disease, Ehlers Danlos Syndrome, Postural Orthostatic Tachycardia Syndrome, Median arcuate ligament Sydndrome, vocal cord dysfunction (1)
Mayer-Rokitansky-Küster-Hauser syndrome (1)
Mayer-Rokitansky-Küster-Hauser syndrome type 1 (1)
MCAD deficiency (1)
McCune-Albright syndrome (1)
MCOPS12 (1)
MECP2 Duplication Syndrome (2)
Medullary sponge kidney (2)
Meesmann corneal dystrophy (2)
MELAS (1)
Mesothelioma (1)
Metachromatic leukodystrophy (1)
Metachromatic leukodystrophy, late infantile form (1)
Microscopic polyangiitis Vasculitis (1)
Microvillus inclusion disease (1)
Mirage syndrome (1)
Misophonia (6)
Mitochondrial disease (1)
Mitochondrial DNA Depletion Syndrome Type 7 (or IOSCA) (1)
Mitochondriopathie (1)
Mixed connective tissue disease (2)
Morquio disease type A (2)
Morquio disease type A, Morquio syndrome (1)
Morquio disease type A, Mucopolysaccharidosis type 4 (1)
Mowat-Wilson syndrome (6)
Moyamoya disease (3)
MPGN (1)
MPS2 (1)
MPSIIIA (1)
MRKH syndrome type 2 (1)
Muckle-Wells syndrome (1)
Mucolipidosis type II (1)
Mucolipidosis type III (1)
Mucopolysaccharidosis (MPS) (1)
Mucopolysaccharidosis type 1 (4)
Mucopolysaccharidosis type 2 (3)
Mucopolysaccharidosis type 3 (1)
Mucopolysaccharidosis type 4 (1)
Mucopolysaccharidosis type 4A (2)
Mucopolysaccharidosis type 6 (1)
Mucopolysaccharidosis type I (1)
Mucopolysaccharidosis typeI. (1)
Mucous membrane pemphigoid (1)
Multifocal motor neuropathy (3)
Multiple autoimmune diseases: Dermatopolymyositis, Scleroderma, Sjogren's Syndrome, Rayanar Syndrome, Mixed Connective Tissue Disease, Overlap Syndrome (1)
Multiple endocrine neoplasia (1)
Multiple endocrine neoplasia type 1 (1)
Multiple epiphyseal dysplasia (1)
Multiple Hereditary Exostoses (1)
Multiple Osteochondromas (1)
Multiple Sclerosis and Fibrous Dysplasia (1)
Multiple system atrophy (1)
Multiple system atrophy, cerebellar type (1)
Mutation of 2 Genes: CAV 3 - RYR 1 ) (1)
Myasthenia gravis (3)
Myelofibrosis, Polycythemia Vera (2)
Myhre Syndrome (2)
Myoclonic dystonia (1)
Myoclonus-dystonia syndrome (1)
Myofibrillar myopathy (1)
Myositis (2)
Myotonic dystrophy type 1 (3)
Nail-patella syndrome (1)
Narcolepsy-cataplexy (1)
Narcolepsy-cataplexy syndrome (4)
NBIA-BPAN-WDR45 (1)
Nephrogenic diabetes insipidus (1)
Nephrotic Syndrome (1)
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome (1)
Netherton syndrome (2)
Neuroacanthocytosis syndromes (1)
Neurofibromatosis type 1 (15)
Neurofibromatosis type 1, Celiac, Dermatitis Herpetiformis, CRPS/RSD (1)
Neurofibromatosis type 1-Noonan syndrome (1)
Neurofibromatosis type 2 (1)
Neurofibromatosis type 2, Huntingtons (1)
Neuromielitis Óptica (1)
Neuromyelitis optica (5)
Neuromyelitis optica Spectrum Disorder (1)
Nicolaides-Baraitser syndrome (7)
Niemann Pick Type C (1)
Niemann-Pick disease type A (1)
Niemann-Pick disease type B (1)
Niemann-Pick disease type C (2)
Nonketotic Hyperglycinemia (NKH) (1)
Noonan syndrome (1)
Norrie disease (1)
NPLE-Anti-LGI1, Neuromyotonia (1)
Nuerocardiogenic Syncope, hemiplegic migraines, dysautonomia, undiagnosed connective tissue disease (1)
Ocular Melanoma (4)
Ogden Syndrome (1)
OHCRONOSIS, ALKAPTONURIA (1)
Okur-chung neurodevelopmental syndrome (2)
Ollier disease (2)
Optic nerve hypoplasia,CHD5, DOCK 10 (1)
Orbital Myositis (1)
Ornithine transcarbamylase deficiency (1)
Osteogenesis imperfecta (3)
Osteogenesis imperfecta type 1 (3)
Osteogenesis imperfecta type 3 (2)
Osteogenesis Imperfecta type VI (1)
Osteogenesis imperfecta, Ehlers-Danlos Syndrome (1)
Osteonecrosis, Osteoporosis (1)
Pachygyria-intellectual disability-epilepsy syndrome (1)
Pallister killian syndrome (2)
Pancreatic neuroendocrine tumor (3)
PANDAS (1)
Panhypopituitarism (3)
Panhypopituitarism, Hypogonadotropic hypogonadism (1)
Papillon-Lefèvre syndrome (1)
Paraganglioma of the Carotid Artery (1)
Paraneoplastic cerebellar degeneration (1)
Paraparesia espastica hereditaria spg5a (1)
Parry-Romberg syndrome (3)
Parsonage Turner Syndrome, Chronic Inflammatory Demyelinating Poloneuropathy (1)
Partial trisomy of chromosome 8q (1)
PCDH19 (1)
Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections (1)
Pelizaeus-Merzbacher-like (1)
Pemphigus vulgaris (1)
Periventricular nodular heterotopia (1)
Peroxisomal biogenesis disorder - Zellweger spectrum disorder (1)
Peroxisomal disease (zellweger syndrome) (1)
Peroxisome biogenesis disorder (2)
Peroxisome biogenesis disorder spectrum (1)
Perthes disease (4)
Peutz-Jeghers Syndrome (1)
PHACE syndrome (2)
PHACES syndrome (1)
Phelan-McDermid syndrome (2)
Phelan-McDermid Syndrome 22q13.3deletion (1)
Phenylketonuria (2)
Phenylketonuria (PKU) (1)
Pheochromocytoma (1)
Pierre-Robin-Sequenz mit einer Lippen-Kiefer-Gaumspalte und das Goldenhar Syndrom (0)
Pigmented villonodular synovitis (2)
PIGN-CDG, Syndrome d'anomalies congénitales multiples-hypotonie-épilepsie (1)
Pili torti (1)
Pituitary adenoma (1)
Pituitary apoplexy, Hypopituitarism (1)
Pityriasis rubra pilaris (2)
PKAN (1)
PKU (6)
Plasminogen deficiency type 1 (1)
Plastic bronchitis (1)
PLCG2-associated antibody deficiency and immune dysregulation (1)
PMM2-CDG (1)
PNH (4)
PNPT1 (1)
Poland syndrome (2)
Policondritis Recidante (2)
Polymicrogyria (1)
Polymicrogyria with optic nerve hypoplasia, cerebral palsy, epilepsy, scoliosis, heart and lung disease, hypospadias, clubbed feet (1)
Polymyositis (1)
Pompe disease, infantile onset (2)
Pompe disease, late onset (1)
Pontocerebellar hypoplasia / PEHO Syndrome (1)
Pontocerebellar hypoplasia type 1 (1)
Porokeratosis of Mibelli (1)
Post-finasteride syndrome (1)
Post-SSRI Sexual Dysfunction (PSSD) (10)
PPP2R5D and Schaaf Yang syndrome (1)
PPP2R5D-related intellectual disability (1)
Prader-Willi syndrome (6)
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 (1)
Primary Addison’s disease (1)
Primary biliary cholangitis (3)
Primary ciliary dyskinesia (6)
Primary Ciliary Dyskinesia (PCD) (1)
Primary immunodeficiency (1)
Primary Lateral Sclerosis (1)
Primary sclerosing cholangitis (1)
Primrose syndrome (1)
Probable Pediatric systemic lupus erythematosus (1)
Progressive Infantile Idiopathic Scoliosis (1)
Progressive myoclonic epilepsy (2)
Progressive myoclonic epilepsy type 6 (1)
Progressive supranuclear palsy-parkinsonism syndrome (1)
Proximal 16p11.2 microduplication syndrome (1)
Pseudohypoparathyroidism type 1B (1)
Pseudomyxoma peritonei (2)
Pseudopseudohypothyroidism progressive osseus hetroplaisia (1)
Pseudoxanthoma elasticum (1)
Psoriatic arthritis,Crohn’s disease,fibromyalgia,hyperthyroidism,Graves disease (1)
Psychogenic movement disorders (1)
PTEN hamartoma tumor syndrome (2)
Pulmonary arterial hypertension (2)
Pulmonary arterial hypertension, congenital heart disease (1)
Pulmonary capillary hemangiomatosis (2)
Pulmonary hypertension due to lung disease and/or hypoxia (2)
Pulmonary hypertension due to lung disease and/or hypoxia, Pulmonary arterial hypertension (1)
Punctate inner choroidopathy (PIC) (1)
Punctate inner choroidopathy with choroidal neovascularization (1)
PURA Syndrome (1)
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome (1)
Pure autonomic failure (1)
Pure Autonomic Failure, EDS, POTS (1)
Pyoderma gangrenosum (1)
Q fever (1)
Quebec platelet disorder (1)
Radiation-Induced Lumbosacral Plexopathy (2)
Reflex Sympathetic Dystrophy (1)
Relapsing polychondritis (9)
Renal nutcracker syndrome (1)
Retinitis pigmentosa (4)
Rett syndrome (1)
RNS (1)
Roberts syndrome (1)
Rocky Mountain Spotted Fever, Alpha-Gal Allergy, & Mast Cell Activation Syndrome (1)
ROHHAD (1)
ROHHAD Syndrome (1)
Rosaï-Dorfman disease (1)
Rpl10 (1)
Sandhoff disease, infantile form (1)
Sanfilippo syndrome type A (2)
Sanfilippo syndrome type B (1)
Sarcoidosis (7)
SCA1 (1)
SCAR7 (1)
Schizencephaly (1)
Scleroderma (8)
Scleroderma with interstitial lung disease (1)
Scleroderma, primary biliary cholangitis, pulmonary arterial hypertension, chronic thromboembolic pulmonary hypertension (1)
Scleroderma, Progressive Relapsing MS, Lupus (1)
Sclerosis Tuberous Complex (1)
SCLS, Systemic capillary leak syndrome (1)
SCN8A (1)
Secondary Reynauds-scleroderma (1)
Septo-optic dysplasia (2)
Severe Aplastic Anemia (1)
Severe combined immune deficiency (1)
Severe congenital neutropenia (1)
Severe primary trimethylaminuria (5)
Short bowel syndrome (1)
Sickle cell anemia (2)
Sickle cell disease (2)
Silver-Russell syndrome (1)
Sindrome de cornelia de lange (1)
Sjogren's syndrome, myelitis, vasculitis (1)
Sjögren-Larsson syndrome (1)
SLC1A4 (1)
SLC25A46 (1)
SLC6A1 (3)
SMA type 1 (2)
SMA type 2 (1)
SMA type 3 (1)
SMALED2 (1)
Small fiber sensory neuropathy (3)
Smith-Kingsmore syndrome (4)
Smith-Magenis syndrome (SMS) (1)
Solar urticaria (1)
Sotos syndrome (3)
Spasmotic Tortacolis (1)
Spastic paraparesis type 2 (1)
Spastic quadriplegic cerebral palsy (1)
SPG5A (1)
Spina Bifida (1)
Spinal muscular atrophy (6)
Spinal muscular atrophy type 1 (2)
Spinal muscular atrophy type 2 (1)
Spinal Muscular Atrophy type III (1)
Spinal muscular atrophy with respiratory distress type 2 (1)
Spino cerebellar ataxia (1)
Spinocerebellar ataxia type 1 (1)
Spinocerebellar ataxia type 2 (1)
Spinocerebellar Ataxia Type 3 (1)
Spinocerebellar ataxie type 5 (1)
Spondyloepimetaphyseal Dysplasia Strudwick Type (1)
Spondyloepiphyseal dysplasia congenita (1)
Spontaneous Spinal Epidural Hematoma. Von Willebrands Type 1 (1)
Sporadic Lymphangioleiomyomatosis with Tuberous Sclerosis (1)
Stickler syndrome type 1 (1)
Stiff man syndrome (1)
Stiff Person Syndrome (1)
Stiff person syndrome and related disorders (6)
Stiff Person Syndrome, T1-Diabetes, Hashimoto's Thyroiditis (1)
STXBP1 (2)
Subglottic stenosis (4)
Superficial Siderosis (3)
Superior mesenteric artery syndrome (1)
Swyer-James-Syndrome (1)
SYNGAP1 (3)
Syringomyelia (2)
Syringomyelia/Syringobulbia (1)
Systemic Lupus Erythematosus (SLE) (1)
Systemic mastocytosis (2)
Systemic scleroderma (2)
Systemic scleroderma, Systemic sclerosis (1)
Síndrome de Bardet-Biedl, transtorno de espectro autista, asma, transtorno de ansiedad entre otros. Enfermedades ya diagnosticadas clínicamente. (1)
Síndrome de Dravet (1)
Síndrome de Upshaw Shulman, Upshaw-Schulman-Syndrome (1)
Takayasu arteritis (1)
Tango2 (0)
Tarlov cyst (7)
Tay-Sachs disease (1)
Tay-Sachs disease, B variant, infantile form (1)
Tenosynovial giant cell tumor (1)
Tetrasomy 15q26 (1)
Thoracic outlet compression syndrome (1)
Thoracic outlet syndrome (2)
Thrombotic thrombocytopenic purpura (1)
Thymoma (2)
Tibial hemimelia, unilateral (1)
Tlk2 (1)
TMAU (1)
Tracheobronchomalacia, ehlers danlos syndrome (1)
Transient Global Amnesia (1)
Transverse Myelitis, (3)
Treacher-Collins syndrome (1)
Trichothiodystrophy (1)
Trigeminal neuralgia (4)
Trimethylaminuria (2)
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TRIO Related Intellectual Disability (1)
Triple A syndrome (1)
Trisomy 18 (1)
TTP (2)
Tuberous sclerosis complex (6)
Turner's disease (1)
Twin Anaemia Polycythemia Sequence (1)
UBE2A Deficiency Syndrome (1)
UIP (1)
Undiagnosed (11)
Undiagnosed (possible connective tissue disorder) (1)
Undiagnosed (suspected THAP12 recessive mutations), Epilepsy, Infantile Spasms, Lennox-Gastaut Syndrome, Cortical Visual Impairment, Dysphagia, Hypotonia, Global Developmental Delay (1)
Undiagnosed and rare diseases (1)
Undiagnosed Mast Cell Activation Syndrome, Undiagnosed Ehlers Danlos Syndrome type III, Idiopathic Urticaria, Conversion Disorder (1)
Undiagnosed, malignant high blood pressure, recurrent respiratory infections, hypotonia, developmental delays, behavior issues, reflux (1)
Undiagnosed, suspected form of auto-immune syndrome (1)
VACTERL association (2)
VACTERL syndrome (1)
VARS (1)
Vascular Ehlers Danlos Syndrome and Brittle Cornea Syndrome (1)
Vasculitis (4)
Vasculitis, Raynaud's Disease (1)
Vertebrobasilar dolichoectasia (1)
Visual snow syndrome (5)
VLCAD deficiency (2)
Vogt-Koyanagi-Harada disease (2)
Von Hippel-Lindau syndrome (1)
Vulvar lymphangioma (1)
WAGR syndrome (2)
Wegener's granulomatosis (2)
WHIM Syndrome (1)
Whistling face syndrome (1)
White-Sutton syndrome (1)
Wiedemann-Steiner syndrome (1)
Williams syndrome (18)
Williams-Beuren syndrome (1)
Wilson disease (2)
Witteveen-Kolk Syndrome, Kallmann Syndrome, Congenital Diaphragmatic Hernia (1)
Wolf-Hirschhorn syndrome (3)
Wolman disease (1)
X-linked hypophosphatemic rickets (1)
X-linked intellectual disability, microcephaly with pontine and cerebellar hypoplasia (MICPCH) (1)
X-linked retinoschisis (1)
XLH (1)
XLH - X-linked hypophosphatemia (1)
Zellweger syndrome (2)
Zellweger syndrome, Peroxisomal Biogensis Disorder (1)
