- Select Disease -
Rigid Spine Muscular Dystrophy (RSMD) (1)
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)
4H Leukodystrophy (1)
4Q Deletion 32.1-Terminal (1)
9q33.3q34.11 microdeletion syndrome (1)
9q34 Duplication syndrome and 10q24 deletion syndrome. (1)
Aarskog syndrome (1)
Abetalipoproteinemia (1)
Abetalipoproteinemia/ Undiagnosed (1)
ACER3-related early childhood-onset progressive Leukodystrophy (1)
Achalasia cardia (3)
Achondroplasia (1)
Acrodermatitis enteropathica (1)
Acromegaly (5)
Acute disseminated encephalomyelitis (1)
Acute Flaccid Myelitis (1)
Acute intermittent porphyria (3)
Acute Lymphoblastic Leukaemia (1)
Acute Necrotizing Encephalopathy (1)
Acute necrotizing encephalopathy of childhood (1)
ADCA, Autosomal dominant cerebellar ataxia (1)
Addison disease (2)
Addison's Disease (5)
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)
Agenesia of the Corpus Callosum (1)
Agenesis of the corpus callosum (1)
Aggressive fibromatosis (1)
Aggressive fibromatosis and granuloma (0)
Aicardi syndrome (2)
Aicardi-Goutières syndrome (2)
AL Amyloidosis (3)
Alagille syndrome (3)
Alexander disease (2)
Alexander’s Disease/Severe Congenital Factor VII Deficiency (1)
Alkaptonuria (4)
Allergic Bronco Pulmonary Aspergillosis (1)
Alloimmunization, Hemolytic Disease of the Fetus and Newborn (HDFN) (1)
Alopecia (1)
Alopecia universalis (1)
Alpha 1 (1)
Alpha-1-antitrypsin deficiency (3)
Alport syndrome (1)
Alstrom Syndrome (1)
Alternating hemiplegia of childhood (2)
Ameloblastoma (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)
Angelman Syndrome UPD (2)
Angioedema and Myasthenia Gravis (1)
Angioedema hereditario tipo 1 (1)
Aniridia (3)
Anti phospholipid antibody syndrome (APS), chronic immune thrombocytopenia (1)
Antiphospholip Sindrom (1)
Antiphospholipid (1)
Antiphospholipid syndrome (1)
Antiphospholipid Syndrome, Thrombocytopenia (1)
Aplastic anemia (1)
APS type 1, APECED (1)
Arachnoid Cyst and undiagnosed problems (1)
Arachnoiditis (3)
Arcodysostosis (1)
Argininemia (1)
ARID1B/Coffin Siris Syndrome and Lennox Gastaut Syndrome (1)
Aromatic L-Amino Acid Decarboxylase Deficiency (1)
Arteritis (1)
Arthogryposis Multiplex Congenita (1)
Arthrogryposis multiplex congenita (1)
Arthrogryposis syndrome (1)
ARVC (1)
Aspergillosis (1)
Ataxia (2)
Ataxia de Friedreich (1)
Ataxia de Friedrich (3)
Ataxia neuropathy spectrum (1)
Ataxia with occulomotor apraxia (1)
Ataxia-telangiectasia (2)
Atresia ani (1)
ATROFIA MUSCULAR ESPINAL (1)
Atrofia muscular espinal tipo 1 (1)
Atrofia Muscular espinhal tipo 2 (1)
Attenuated familial adenomatous polyposis (1)
Attenuated familial adenomatous polyposis (AFAP) (2)
Attenuated FAP (0)
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)
Axenfeld-rieger syndrome PITX2 and macrocephaly (1)
Bainbridge Ropers Syndrome (1)
Bannayan-Riley-Ruvalcaba syndrome (1)
Bardet Biedl Syndrome (1)
Barth Syndrome (1)
Bartter syndrome (2)
Bartter syndrome type 2 (1)
Bartter syndrome type 3 (1)
Batten Disease (1)
BBS (1)
Bechet , myasthenia gravis.hashimoto. (1)
Becker Muscular Dystrophy (2)
Beckwith wiedemann (1)
Beckwith Wiedemann Syndrome (1)
Behcet's (1)
BEHCET's, MYASTHENIA GRAVIS, HASHIMOTO, MAST CELL DISSORDER (1)
Behcet’s Disease, Sjögren’s Syndrome, Selective IgA Deficiency (1)
Behçet disease (11)
Behçet disease and Addisons Disease (1)
Behçet's Disease (2)
BENTA (1)
Beta-thalassemia (1)
BH4 Deficiency (2)
Biallelic mutations in VWA1 cause a hereditary motor neuropathy 2 with myopathic features (1)
Bile acid synthesis defect with cholestasis and malabsorption (1)
Biliary atresia (3)
Biotinidase deficiency (1)
Birk Barel (1)
Bladder exstrophy (2)
Bladder exstrophy-epispadias-cloacal extrophy complex (1)
Blastomycosis (1)
Blepharospasm-oromandibular dystonia syndrome (1)
Bohring-Opitz syndrome (1)
BPAN, an NBIA Disorder (1)
Brain Basilar & Vertebrobasilar Mega-Dolicho-Ectasia (1)
Brain haemorrhage, hydrocephalus, epilepsy, cerebral palsy, severe developmental delays, cortical vision impairment, (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)
Brown syndrome (1)
Brucellosis (1)
Brugada Syndrome (1)
Börjeson-Forssman-Lehman Syndrome (1)
CACNA1C disorder, epilepsy, low muscle tone, chronic pulmonary disorder, long QT syndrome (1)
CAD Gene Deficiency (1)
CADASIL (1)
Camurati Engelmann's Disease (1)
Camurati-Engelmann disease (1)
Canavan disease (1)
CANVAS (1)
Carcinoid syndrome (1)
Carnitine palmitoyl transferase deficiency type 2, neonatal form (1)
Caroli disease (2)
CASK Gene mutation (1)
Catecholamine-producing tumor (1)
Cavernoma (1)
Cavernoma - CCM3 gene (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)
CDG (1)
CDKL5 (1)
CDKL5 Deficiency Disorder (1)
Center Nerve Pain Stroke (1)
Central Core Disease, (MHS) HIPERTERMIA MALIGNA (1)
Central diabetes insipidus (1)
Central Pain Syndrome and Cavernous Malformations (1)
Central Pain Syndrome, Cavernous Malformations (2)
Centronuclear Myopathy (1)
Cerebral arteriovenus malformation (1)
Cerebral malformation, Cerebral Cavernous Angioma (1)
Cerebrospinal fluid leak (0)
CFC Syndrome (1)
Champ 1 Gene Mutation (1)
CHAMP1 (2)
CHAMP1 gene mutation (1)
Champ1 mutation (1)
Charcot-Marie-Tooth disease (3)
Charcot-Marie-Tooth disease type 1 (1)
Charcot-Marie-Tooth disease type 1A (2)
Charcot-Marie-Tooth Disease Type 4B3 (CMT4B3) (1)
CHARGE syndrome (1)
CHD2 (1)
Chiari Malformation (1)
Chiari Malformation & Syringomyelia (1)
Chiari malformation type (1)
Chiari malformation type 1 (1)
Chiari malformation type II (1)
Chiari Malformation, Trigeminal Neuralgia, Ehlers Danlos Syndrome, Syringomyelia, Postural Orthostatic Tachycardia Syndrome, (1)
Chiari, Ehlers Danlos, POTS, Lupus (1)
Chiari, IIH, EDS, Gastroparesis, Occipital and Trigeminal neuralgia, chronic migraine (1)
Choledochal cyst (1)
Cholesteatoma (1)
Cholesteryl ester storage disease (1)
CHOPS syndrome (1)
Choroiditis (1)
Christianson syndrome (2)
Chromosome 14 and 21 duplication (1)
Chronic Clusterheadache and Chronic paroxysmal hemicrania (1)
Chronic hiccup (1)
Chronic Idiopathic Thrombocytopenic Purpura (1)
Chronic inflammatory demyelinating polyneuropathy (4)
Chronic intestinal failure, Short bowel syndrome. (1)
Chronic intestinal pseudobstruction (CIPO) (1)
Chronic intestinal pseudoobstruction (1)
Chronic myeloid leukemia (3)
Chronic pneumonia, chronic anemia, Lupus (1)
Chronic Q fever (1)
Chronic recurrent multifocal osteomyelitis (2)
Chronic thromboembolic pulmonary hypertension (1)
Chylomicron retention disease (1)
CIDP (2)
CITOPATIA MITOCONDRIAL ASOCIADO A MTCO3 (1)
Clediocrainial dysplasia (1)
CLN2 Batten Disease & Ververi Brady Syndrome (1)
CLN2- Battens Disease (1)
Cloacal exstrophy (1)
Cloves / Ktw syndrome (1)
CLOVES Syndrome (2)
Cluster headaches (1)
CMM (1)
CMT (1)
CMT4J (1)
CNL 8 (1)
Coats Disease (1)
Cockayne Syndrome (1)
Coffin Siris Syndrome (1)
Cohen Syndrome (1)
Cold Urticaria (1)
Combined d-2- and l-2-hydroxyglutaric aciduria (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 immune deficiency bronchiectasis factor v Leiden protein c deficiency hx desmoid tumor (1)
Common variable immunodeficiency (4)
Common variable immunodeficiency (CVID) (1)
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 (16)
Complex Regional Pain Syndrome (CRPS) (1)
Complex regional pain syndrome (CRPS) , Autonomic Dysfunction, Small Fiber Polyneuropathy , Irritable Bowel Syndrome , Undiagnosed GI (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 (6)
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (1)
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome (1)
Congenital Central Hypoventilation Syndrome (1)
Congenital diaphragmatic hernia (2)
Congenital dyserythropoietic anemia 1a (1)
Congenital factor V deficiency (1)
Congenital Glaucoma (1)
Congenital Melanocytic Naevi (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)
CoPAN disease (1)
Corneal Neuralgia (1)
Cornelia de Lange syndrome (1)
Corticobasal Degeneration (1)
Costello Syndrome (1)
Cowden syndrome (2)
Creatine transporter deficiency (1)
Creatine Transporter Deficiency Syndrome (1)
CREST syndrome (2)
Creutzfeldt-Jakob Disease (1)
Cri du chat syndrome (1)
Crigler-Najjar syndrome (3)
Crigler-Najjar syndrome type 1 (1)
Crouzon disease (2)
CRPS (3)
Cryoglobulinemia ,Vulvar Cancer , G6PDD (1)
Cryoglobulinemic vasculitis (1)
Cryopyrin-associated periodic syndrome (1)
CTNNB1 Syndrome (2)
Cushing disease (3)
Cushing's Disease (1)
Cutis Marmorata Telangiectatica Congenita (2)
CVID (7)
CYLD Cutaneous Syndrome (1)
Cystic Angiomatosis (3)
Cystic fibrosis (8)
Cystic fibrosis, CF related diabetes, CF related arthritis, Celiac disease, Thalassemia Minor (1)
Cystic hygroma (1)
Cystinosis (3)
Cystinuria (1)
Dandy-Walker Syndrome (1)
Dcsi (1)
DDX3X (2)
DDX3X mutation syndrome (1)
Defeating Duane syndrome (1)
Defective prmt7 (1)
Degos disease (1)
Deletie 1q21.1-1q21.2 (1)
Deletion and Duplication 13q (1)
Deletion and Duplication on 13q (1)
Deletion of 2P25.13 (1)
Dercum disease (1)
Dercum disease, Ehlers-Danlos Syndrome, MCAS, Cushing’s Syndrome, Addison’s (1)
Dercum's Disease, Ehlers-Danlos Syndrome, MCAS, Cushing's, Adrenal Insufficiency (1)
Dermatomyositis (5)
Desbuquois dysplasia (1)
Desbuquois syndrome (2)
Desmoid tumor (1)
Desmoid type fibromatosis (1)
Diabetes Insipidus (1)
Diamond Blackfan Anemia (1)
Diffuse cutaneous systemic sclerosis (1)
Dilated cardiomyopathy (1)
DISAMMINATED PLASMOCYTOMA (1)
Discinesia Ciliar Primaria DCP e Narcolepsia (1)
Disorder of bile acid synthesis, with cholestasis and malabsorption (1)
Disorder of urea cycle metabolism and ammonia detoxification (1)
Distrofia muscular duchene (1)
Distrofia Neuroaxonal Infantil (INAD) (1)
Disturbo biogenesi perossisomi (1)
DMD (1)
DMJ (1)
Doença de POMPE (1)
Donnai-Barrow syndrome (2)
Dopa-responsive dystonia (DRD) (1)
DREPANOCYTOSE (1)
DRESS syndrome (1)
DTDS (SLC6A3) (1)
Duane Syndrome (1)
Duchenne muscular dystrophy (11)
Duchenne Muscular dzstrophz (1)
Duplication gene 15q (1)
DYRK1A Syndrome (1)
DYRK1A-related intellectual disability syndrome (1)
Dysgerminoma (1)
Dystonia-plus syndrome (1)
Dystrophic Epidermolysis Bullosa (2)
Eagle Syndrome (2)
Eastern equine encephalitis (1)
ECHS1 Deficiency - Mitochondrial Disease (1)
ECHS1-D (1)
EDS, Scheuermanns, BlueRubber Bleb Syndrome (1)
EEC syndrome (1)
EGPA (1)
EGPA, Congenital myasthenic syndrome (1)
Ehlers danlos syndrome (kEds) (1)
Ehlers danlos syndrome, fibromyalgia, Psoratic arthritis (1)
Ehlers Danlos Syndrome, MCAS (1)
Ehlers Danlos tipo vascular (1)
Ehlers Danlos, Primary Immunodeficiency, Mast Cell Activation Syndrome, Hemaphagocytosis, Dysautonomia (1)
Ehlers Danlos, vascular type (1)
Ehlers-Danlos Sindrome (1)
Ehlers-Danlos syndrome (22)
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)
Encefalopatia mitocondrial (1)
Encefalopatia mitocondrial sindrome de melas (1)
Encephalocele and Hydrocephalus (1)
EOE (Eosinophilic Esophagitis) (1)
Eosinophiler Granulomatose mit Poliangiitis (EGPA) (1)
Eosinophilic esophagitis (9)
Eosinophilic fasciitis (1)
Eosinophilic gastroenteritis (4)
Epidermolysis bullosa dystrophica (4)
Epidermolysis Bullosas (1)
Episodic ataxia type 2 (2)
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)
Evans Syndrome (1)
Ewing’s sarcoma (2)
Exercise induced Upper extremity DVT (1)
Exomphalos Major / Omphalocele (1)
Fabry disease (2)
Fabrys Disease (1)
Facial Infiltrating Lipomatosis (1)
Facioscapulohumeral dystrophy (1)
Facioscapulohumeral Muscular Dystrophy (1)
Factor five v laiden, chari malformation and epilepsy (1)
FAHR'S SYNDROME (1)
Familial adenomatous polyposis (4)
Familial Chylomicronaemia Syndrome (1)
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)
Female symptomatisk dystrofinopaty (1)
FG syndrome type 1 (3)
Fibrodysplasia ossificans progressiva (6)
Fibrodysplasia ossificans progressiva (FOP) (1)
Fibrolamellar hepatocellular carcinoma (1)
Fibromuscular dysplasia (1)
Fibrosing mediastinitis (1)
Fibrous Dysplasia (4)
FMD fibromuscular dysplasia (1)
FMF (Familial Mediterranean Fever),AA-Amyloidose,u.a. (1)
FMF(FAMILIAL MEDITERRANEA FEVER) AA-AMYLOIDOSE, U.a. (1)
FOSMN syndrome (2)
FOXP1 Syndrome (1)
FPIES and Spontaneous hyperthermia (1)
Fraser Syndrom (1)
Friedreich ataxia (3)
Friedreich's Ataxia, Autoimmune Hepatitis, Desmoid Tumors (1)
Friedrich's ataxia (1)
From Spain "The voice of young people. (1)
FSHD (2)
GA1 (1)
GABRA3 Related Neurodevelopmental Disorder (1)
Galactosemia (3)
Galactosemia Classica (1)
Galactosemia type 1 (2)
Galloway-Mowat Syndrome (1)
Gardner syndrome (1)
Gastrointestinal Stromal tumor and (1)
Gastroparesis (3)
Gastroschisis (1)
Gata 2 deficiency (1)
Gaucher (1)
Gaucher Disease (1)
Gauchers type 3 (1)
GBS (1)
GBS- Guillain-Barré syndrome (1)
Geleophysic dysplasia (1)
Generalised Myasthenia Gravis (1)
Generalized Pustular Psoriasis (1)
Giant cell hepatitis. Interstitial lung disease. Autoimmune haemolytic anaemia. (1)
Giant cell tumor of bone (1)
Giant Cell Tumour (1)
Gigantomastia (1)
Gitelman Syndrome (1)
Glanzmann's Thrombasthenia (1)
Glutaric Acidemia (1)
Glutaric Acidemia type II (1)
Glutaric aciduria type one (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 (4)
Goldberg-Shprintzen megacolon syndrome (2)
Gorham-Stout disease (1)
GPA (2)
Granulomatosis with polyangiitis (2)
Granulomatosis with Polyangitis (1)
Greig syndrome (1)
Grey Matter Heterotopia, Cervical ribs, unfused posterior arch of C-1 pituitary stalk lesions (1)
Guillain-Barré syndrome (12)
Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form (1)
Guillian Barre Syndrome/ CIDP/ Sjogren's Syndrome/Systemic Lupus Erythematosus (1)
H-EDS (1)
Hao-Fountain (1)
HATTR Hereditary Amyloidosis (1)
HEDS (2)
Hemangioendotelioma Epitelioide Hepático (1)
Hemicrania continua (1)
Hemochromatosis due to defect in ferroportin (1)
Hemofilia (1)
Hemonoglubinuria paroxística nocturna (2)
Hemophilia (2)
Hemophilia A (1)
Henoch Schönlein Purpura (1)
Henoch-Schonlein purpura vasculitis (1)
Hereditary alpha tryptasemia (1)
Hereditary amyloidosis (1)
Hereditary Angioedema (1)
Hereditary angioedema type 3 (3)
Hereditary fructose intolerance (2)
Hereditary pulmonary arterial hypertension (1)
Hereditary spastic paraparesis (1)
Hereditary spastic paraplegia (5)
Hereditary Spastic Paraplegia (SPG7) (1)
Hereditary Spastic Paraplegia Type 56 (SPG56) (1)
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)
Hidradenitis Supprativa (1)
HIDS (1)
Hirschprungs disease (1)
Hirschsprung disease (11)
Hirschsprung's disease (2)
HIVEP2 (1)
HIVEP2 disorder (1)
HNPP (1)
HNRNPH2 (1)
Hodgkin’s lymphoma (1)
Hollow visceral myopathy / Chronic intestinal pseudo obstruction/ ACTG2 gene mutation (1)
Holt-Oram syndrome (1)
Home (1)
Homocystinuria due to cystathionine beta-synthase deficiency (1)
HSAN IV (1)
HSAN1E (1)
Huntington Chorea (1)
Huntington disease (4)
Hydrocephaly-cerebellar agenesis syndrome (1)
Hyper-IgD Syndrome (HIDS) (1)
Hyperekplexia (1)
Hypereosonophilic Syndrome (HES) (1)
Hyperphenylanemia due to DNAJC12 Deficiency (1)
Hypertrophic Cardiomyopathy (1)
Hypocalcemic (1)
Hypogammagloblanemia (1)
Hypogammaglobulinemia (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)
Hypoplasie ponto-cérébelleuse (mutation gène CASK) (1)
Hypotonia-speech impairment-severe cognitive delay syndrome (1)
Ichthyosis (3)
Idiopathic Angioedema (1)
Idiopathic CD4 lymphocytopenia (1)
Idiopathic granulomatous lobular mastitis (1)
Idiopathic intracranial hypertension (15)
Idiopathic ketotic hypoglycemia (1)
Idiopathic Late Stage Dumping Syndrome (1)
Idiopathic NBIA Disorder, Neurodegeneration with brain iron accumulation (1)
Idiopathic pulmonary arterial hypertension (1)
Idiopathic pulmonary fibrosis (2)
Idiopathic pulmonary hemosiderosis (2)
Idiopathic Subglottic Stenosis (8)
Idiopathic syringomyelia (1)
Idiopatic multicenter castleman disease (1)
IgG4-related disease (2)
IgG4-related pancreatitis (1)
IIH (1)
Immune thrombocytopenia (ITP) (1)
Imperforate Anus (1)
Incontinentia pigmenti (1)
Incontinentia Pigmenti (IP) (1)
Infantile dystonia-parkinsonism (1)
Infantile inset ascending hereditary spastic paraplegia (1)
Infantile Neuro Axonal Dystrophy (1)
Infantile neuroaxonal dystrophy (3)
Infantile Spasms (IS) and Focal Epilepsy due to NPRL3 microdeletion (1)
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 (1)
ITP, Immune thrombocytopenic purpura (1)
Jacobsen syndrome (1)
Jejunal atresia (1)
Jeune syndrome (1)
Juvenile Batten Disease, Batten Disease (1)
Juvenile Dermatomyositis (1)
Juvenile dermatomyositis, JDM (1)
Juvenile Huntington's (1)
Juvenile Polymyositis (1)
Juvenile Spondyloarthropathy Arthritis, Amplified Musculoskeletal Pain Syndrome (1)
Juvenile Xanthogranuloma (1)
Kallmann syndrome (4)
Kat6a (1)
Kbg (0)
KBG syndrome (2)
KCNQ2-related epileptic encephalopathy (1)
Kcnt1 (1)
Keratinization of lid margin and Severe Photophobia (1)
KIDINS220 Mutation / SINO Syndrome (1)
Kienbock's disease (1)
Kleefstra syndrome (5)
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)
Klipple Feil Syndrom, Sprengal’s Deformity (1)
Koolen-De Vries syndrome (1)
Krabbe Disease (1)
Lafora disease (1)
Lamb-Shaffer syndrome (3)
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)
LCPD - Legg–Calvé–Perthes disease (1)
Leber congenital amaurosis (LCA) (1)
Ledderhose disease (4)
Legg-Calvé-Perthes disease (2)
Legius syndrome (1)
Leigh’s Syndrome (1)
Leiomyosarcoma (1)
Leiomyosarcoma of the corpus uteri (1)
Lennox gastaut syndrome (2)
LEPR (1)
LES (Lupus Eritematoso Sistémico) (1)
Leukodystrophy (2)
Leukodystrophy 4H (1)
Leukodystrophy and Epilepsy (1)
Leukodystrophy, Vanishing White Matter Disease (1)
Leukoencephalopathy with vanishing white matter (1)
Li-Fraumeni Syndrome (1)
Lichen (1)
Lichen Scelerosus (1)
Lichen Sclerosus (1)
Lichen sclerosus and vulval cancer (1)
Liddle's Syndrome (1)
Ligase 4 Syndrome (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)
Lipodystrophy (1)
Lipodystrophy: Type 2 (Dunnigan Variety) FPLD2 (1)
Liposarcoma (1)
Lissencephaly (3)
LMNA-related congenital muscular dystrophy (1)
Loeys-Dietz syndrome (1)
Loeys-Dietz Syndrome type 2 (1)
Long QT Type 5 (1)
Long-QT-Syndrom (1)
Lowe syndrome (1)
Lupus (4)
Lupus erythematosus panniculitis (1)
Lupus erythematosus tumidus (1)
Luscan Lumish syndrome SETD2 (1)
Lyme disease (1)
Lymphangioleiomyomatosis (3)
Lymphatic Malformation (1)
Lymphatic Plastic Bronchitis (1)
Lymphedema Distichiasis (1)
Léri-Weill dyschondrosteosis, cerebral palsy, Foetal alcohol syndrome (1)
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (1)
Macrodactyly of foot (3)
Macular Dystrophy (1)
Madelung deformity, bilateral (1)
Mal de Debarquement Syndrome (MdDS) (1)
Mal de débarquement (1)
Maladie de MoyaMoya (1)
Malformación ano rectal, atresia esofagica, hemivertebra, CIA, hidronefrosis derecho, , (1)
Malignant migrating partial epilepsy of infancy (1)
Maple syrup urine disease (2)
Marfan syndrome (2)
Mast cell activation disorder (1)
Mast cell activation syndrome (2)
Mast cell disease (2)
Mast cell disease, Ehlers Danlos Syndrome, Postural Orthostatic Tachycardia Syndrome, Median arcuate ligament Sydndrome, vocal cord dysfunction (1)
Mast Cell Disease, Tarlov Cyst and Ehlers Danlos (1)
Mast Cell Disease, Tarlov Cyst Disease, Ehlers Danlos (1)
Mastocytosis (1)
Mayer-Rokitansky-Küster-Hauser syndrome (1)
Mayer-Rokitansky-Küster-Hauser syndrome type 1 (1)
MCAD deficiency (1)
McCune-Albright syndrome (1)
MCOPS12 (1)
MCT8 (1)
Mdp syndrome (1)
Mds (1)
MDS and AML (1)
MECP2 Duplication Syndrome (3)
Med12- lujan fryns syndrome (1)
MED13L (1)
Median arcuate ligament syndrome, renal nutcracker syndrome, SMA syndrome (1)
Median arcuate ligament syndrome, superior mesenteric artery compression, widespread chronic pain syndrome, venous insufficiency, nutcracker syndrome, mast cell activation syndrome, may thurner syndrome, thoracic outlet syndrome, ehlers danlos, pots (1)
Medium chain acyl-coA dehydrogenase deficiency (MCADD) (1)
Medullary sponge kidney (2)
Meesmann corneal dystrophy (2)
MELAS (1)
Melas syndrome (1)
Mesothelioma (1)
Metachromatic leukodystrophy (1)
Metachromatic leukodystrophy, late infantile form (1)
Methylmalonic Acidemia (1)
Microcéphalie avec hypoplasie ponto-cérébelleuse (mutation gène CASK) (1)
Microphthalmia-dermal-aplasia-sclerocornea syndrome (1)
Microscopic polyangiitis Vasculitis (1)
Microvillus inclusion disease (1)
Miller-dieker-syndrome (1)
Miopatía central core , hipertermia maligna (1)
Mirage syndrome (1)
Misophonia (6)
Mitochondrial disease (2)
Mitochondrial DNA Depletion Syndrome Type 7 (or IOSCA) (1)
Mitochondriopathie (1)
Mitocondrialis Disease (1)
Mixed connective tissue disease (2)
MLD Metachromatic Leukodystrophy (1)
MNGIE (1)
Mollaret Meningitis (1)
Morbus Coats (1)
Morning Glory Syndrome (1)
Morquio A Syndrome (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)
Moya Moya (1)
Moyamoya disease (3)
MPGN (1)
MPS2 (1)
MPSIIIA (1)
MRKH syndrome type 2 (1)
MRKH type 2 (1)
Muckle-Wells syndrome (1)
Mucolipidosis type II (1)
Mucolipidosis type III (1)
Mucopolisacaridosis (1)
Mucopolissacaridose Tipo I (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 (4)
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 Hereditary Exostoses (MHE) (1)
MULTIPLE MYELOMA (1)
Multiple Osteochondromas (1)
Multiple sclerosis (1)
Multiple Sclerosis and Fibrous Dysplasia (1)
Multiple system atrophy (1)
Multiple system atrophy, cerebellar type (1)
Muscular dystrophy (1)
Mutación en el gen CFTR c. 860dupA (1)
Mutation of 2 Genes: CAV 3 - RYR 1 ) (1)
Mutazione genetica di mia figlia gabra 5 (1)
Myasthenia gravis (6)
Mycobacterium avium mac (1)
Myelofibrosis, Polycythemia Vera (2)
Myhre sindrome (1)
Myhre Syndrome (2)
Myoclonic dystonia (1)
Myoclonus-dystonia syndrome (1)
Myofibrillar myopathy (1)
Myopathie GNE (1)
Myopathie, keine weitere Bezeichnung, da Weltweit die einzige mit dieser Gen- Zusammensetzung (1)
Myositis (2)
Myotonic dystrophy type 1 (3)
Nail-patella syndrome (1)
Name of disease (dropdown wip) (0)
Narcolepsy with Cataplexy (1)
Narcolepsy-cataplexy (1)
Narcolepsy-cataplexy syndrome (4)
Narkolepsy and Cataplexy (1)
NBIA-BPAN-WDR45 (1)
Necrotising Enterocolitis Survivor (1)
Nemaline Rod Disease (1)
Nephrogenic diabetes insipidus (1)
Nephrotic Syndrome (2)
Nephrotic Syndrome minimal Change (1)
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome (1)
Netherton syndrome (2)
Neuroacanthocytosis syndromes (1)
Neurofibromatose type1 (1)
Neurofibromatosis type 1 (17)
Neurofibromatosis type 1, Celiac, Dermatitis Herpetiformis, CRPS/RSD (1)
Neurofibromatosis type 1-Noonan syndrome (1)
Neurofibromatosis type 2 (1)
Neurofibromatosis type 2, Huntingtons (1)
Neurofibromatosis type1 plus more (1)
Neuromielitis Óptica (1)
Neuromyelitis optica (5)
Neuromyelitis optica Spectrum Disorder (1)
Neuropathic corneal pain and Meesmanns dystrophy (1)
Neurosarcoidosis (1)
NEXMIF (0)
Nicolaides-Baraitser syndrome (7)
Niemann pick b (1)
Niemann Pick Type C (2)
Niemann-Pick disease type A (1)
Niemann-Pick disease type B (1)
Niemann-Pick disease type C (2)
Niemann-pick type A (1)
NKH (1)
NMOSD (1)
Nonketotic Hyperglycinemia (1)
Nonketotic Hyperglycinemia (NKH) (1)
Noonan syndrome (1)
Norrie disease (1)
NPLE-Anti-LGI1, Neuromyotonia (1)
NRXN1 (2p16.3 deletion) (1)
Nuerocardiogenic Syncope, hemiplegic migraines, dysautonomia, undiagnosed connective tissue disease (1)
NUTCRACKER SYNDROME (1)
Ocular Melanoma (4)
Ogden Syndrome (1)
OHCRONOSIS, ALKAPTONURIA (1)
Okur-chung neurodevelopmental syndrome (3)
Ollier disease (2)
Optic nerve hypoplasia,CHD5, DOCK 10 (1)
Oral Facial Digital Syndrome Type 1 (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)
Osteosarcoma (bone cancer) (1)
Pachygyria-intellectual disability-epilepsy syndrome (1)
Paediatric CIDP (1)
Pallister killian syndrome (2)
Pancreatic neuroendocrine tumor (3)
PANDAS (1)
Panhipopituitarismo insuficiência adrenal e diabetes insipidus (1)
Panhypopituitarism (4)
Panhypopituitarism, Hypogonadotropic hypogonadism (1)
Papillon-Lefèvre syndrome (1)
Paraganglioma of the Carotid Artery (1)
Paraneoplastic cerebellar degeneration (1)
Paraneoplastic Stndrome (1)
Paranodopathie/CIDP-Variante (1)
Paraparesia espastica hereditaria spg5a (1)
Parry-Romberg syndrome (4)
Parry-Rombergs (1)
Parsonage Turner Syndrome, Chronic Inflammatory Demyelinating Poloneuropathy (1)
Partial Molar Pregnancy (1)
Partial trisomy of chromosome 8q (1)
PCDH19 (1)
PCDH19 epilepsy (1)
Pearson syndrome (1)
Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections (1)
Pelizaeus-merzbacher like disease (1)
Pelizaeus-Merzbacher-like (1)
Pemphigoid Gestationis (PG) (1)
Pemphigus vulgaris (2)
Periodic familial Mediterranean fever and secondary familial amyloidosis (1)
Periodic fever, aphthous stomatitis, pharyngitis and adenitis- PFAPA (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)
Persistent Postural Perceptual Dizziness (1)
Perthes disease (4)
Peters plus syndrome (1)
Pettigrew syndrome (AP1S2 gene disorder)/subcorticol heterotopia/autism (1)
Peutz-Jeghers Syndrome (1)
PHACE syndrome (2)
PHACES syndrome (1)
Phelan-McDermid (1)
Phelan-McDermid syndrome (3)
Phelan-McDermid Syndrome 22q13.3deletion (1)
Phenylkeronuria (1)
Phenylketonuria (2)
Phenylketonuria (PKU) (1)
Pheochromocytoma (1)
Pierre Robin Sequence (1)
Pierre Robin Syndrome (1)
Pigmented villonodular synovitis (2)
PIGN-CDG, Syndrome d'anomalies congénitales multiples-hypotonie-épilepsie (1)
Pik3ca Related Overgrowth Spectrum (1)
Pili torti (1)
Pituitary adenoma (1)
Pituitary apoplexy, Hypopituitarism (1)
Pituitary Cancer, Adrenal Insufficiency (1)
Pituitary Carcinoma, Primary Adrenal Insufficiency (1)
Pityriasis rubra pilaris (2)
PKAN (1)
PKAN2 (1)
PKU (8)
Pku (phenylketonuria) (1)
Plasminogen deficiency type 1 (1)
Plastic bronchitis (1)
PLCG2-associated antibody deficiency and immune dysregulation (1)
PMLD (pelizaeus-merzbacher like) (1)
PMM2-CDG (1)
PNH (5)
PNPT1 (1)
Poland syndrome (2)
Policondritis Recidante (2)
Polycystic Kidney Disease (1)
Polymicrogyria (1)
Polymicrogyria with optic nerve hypoplasia, cerebral palsy, epilepsy, scoliosis, heart and lung disease, hypospadias, clubbed feet (1)
Polymyositis (1)
Pompe (1)
Pompe Disease (1)
Pompe disease, infantile onset (3)
Pompe disease, late onset (1)
Pontine Tegmental Cap Syndrome (1)
Pontocerebellar Hypoplasia (1)
Pontocerebellar hypoplasia / PEHO Syndrome (1)
Pontocerebellar hypoplasia type 1 (1)
Porfiria eritropoyetica congenita (1)
Porfirias (0)
Porokeratosis of Mibelli (1)
Post surgical turbinate injury( ENS) (1)
Post-finasteride syndrome (1)
Post-SSRI Sexual Dysfunction (PSSD) (10)
Potocki-Lupski (1)
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 (4)
Primary Billiary Cholangitis, Celiacs Disease, hypereosinophilic syndrome (1)
Primary ciliary dyskinesia (8)
Primary Ciliary Dyskinesia (PCD) (1)
Primary Cilliary Dyskinesia (1)
Primary HLH (1)
Primary Hyperoxaluria (1)
Primary immune deficiency Common variable immune deficiency factor v Leiden Bronchiectasis pseudomonas fibromyalgia (1)
Primary immunodeficiency (1)
Primary Lateral Sclerosis (2)
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 (1)
Pseudohypoparathyroidism type 1B (1)
Pseudomyxoma peritonei (2)
Pseudopseudohypothyroidism progressive osseus hetroplaisia (1)
Pseudotumor Cerebri / Hipertensión Endocraneana (Hic o. iIH) (1)
Pseudotumor Cerebro (IIH o HIC) (1)
Pseudoxanthoma elasticum (2)
Pseudoxanthoma elssticum (1)
Psoriatic arthritis,Crohn’s disease,fibromyalgia,hyperthyroidism,Graves disease (1)
Psychogenic movement disorders (1)
PTEN (1)
PTEN hamartoma tumor syndrome (3)
Pudendal Neuralgia / Tarlov Cyst (1)
Pulmonary Alveolarproteinosis (1)
Pulmonary arterial hypertension (3)
Pulmonary arterial hypertension, congenital heart disease (1)
Pulmonary Artery Sarcoma, Fibromuscular Dysplasia (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 (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)
Rare bleeding (1)
Rare genetic disorder called EEF1A2 (1)
Reflex Sympathetic Dystrophy (1)
Relapsing polychondritis (11)
Renal nutcracker syndrome (1)
Retinitis pigmentosa (4)
Retroperitoneal Fibrosis (1)
Rett syndrome (3)
Rhizomelic chondrodysplasia punctata (1)
Rhizomelic chondrodysplasia punctata type 2 (1)
RHOBTB2 mutation (1)
Rigid Spine Muscular Dystrophy (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)
Runx1 FPD (1)
Sandhoff disease, infantile form (1)
Sanfilippo syndrome type A (2)
Sanfilippo syndrome type B (1)
Sarcoidosis (8)
SCA1 (1)
SCAR7 (1)
Schizencephaly (1)
Scleroderma (10)
Scleroderma with interstitial lung disease (1)
Scleroderma, primary biliary cholangitis, pulmonary arterial hypertension, chronic thromboembolic pulmonary hypertension (1)
Scleroderma, Progressive Relapsing MS, Lupus (1)
Scleroderma, Rheumatoid Arthritis, Alopecia, Ehlers Danlos Syndrome (1)
Sclerosis Tuberous Complex (1)
SCLS, Systemic capillary leak syndrome (1)
SCN2A GENE (1)
SCN2A GENE MUTATION (1)
SCN8A (1)
Secondary Reynauds-scleroderma (1)
Secuencia de Pierre Robin (1)
Septo-optic dysplasia (2)
Severe Aplastic Anemia (1)
Severe combined immune deficiency (1)
Severe congenital neutropenia (1)
Severe primary trimethylaminuria (5)
Short bowel sindrome K91.2 (1)
Short bowel syndrome (2)
Sickle cell anemia (2)
Sickle cell disease (2)
Silver-Russell syndrome (1)
Sindrome de cornelia de lange (1)
Sindrome de crouzon (hidrocefalia, malformaciones craneales) (1)
SINDROME ORO FACIAL DIGITAL TIPO 1 (1)
Sjogren's syndrome, myelitis, vasculitis (1)
Sjögren-Larsson syndrome (1)
SLC1A4 (1)
SLC1A4 Deficiency Syndrome (1)
SLC25A46 (1)
SLC6A1 (4)
SMA type 1 (3)
SMA type 2 (1)
SMA type 3 (1)
SMALED2 (1)
Small Fiber Neuropathy (1)
Small fiber sensory neuropathy (3)
Smith-Kingsmore syndrome (4)
Smith-Magenis syndrome (SMS) (1)
SnijdersBlokCampeau Syndroom (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 (7)
Spinal Muscular Atrophy (SMA) (1)
Spinal muscular atrophy 3B (1)
Spinal muscular atrophy type 1 (3)
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)
Stargardt Disease (0)
Statin induced myopathy (1)
Stickler syndrome type 1 (1)
Stiff man syndrome (1)
Stiff Person Syndrome (2)
Stiff person syndrome and related disorders (6)
Stiff Person Syndrome, T1-Diabetes, Hashimoto's Thyroiditis (1)
Sturge Weber (1)
STXBP1 (4)
STXBP1 Encephalopathy (1)
Subglottic stenosis (4)
Superficial Siderosis (3)
Superior mesenteric artery syndrome (1)
Superior Semicircular Canal Dehiscence (1)
Surfactant protein c deficiency (1)
Swyer-James-Syndrome (1)
Syndrome de Barré-Liéou (1)
Syndrome de Cowden (1)
SYNGAP1 (5)
Syringomyelia (2)
Syringomyelia/Syringobulbia (1)
Systematic Lupus Erythematosus (1)
Systemic Lupus Erythematosus (1)
Systemic Lupus Erythematosus (SLE) (1)
Systemic mastocytosis (3)
Systemic scleroderma (3)
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)
Síndrome de Vulto-Van Silfhout de Vries (1)
Síndrome de williams Beuren (2)
Síndrome delecion 6q25 (1)
Síndrome do triplo x (1)
Síndrome klippel trenaunay (1)
Síndrome Pitt-Hopkins (1)
Síndrome pós poliomielite e Síndrome de Schneider (1)
Takayasu arteritis (1)
Tango2 (2)
Tarlov cyst (7)
Tatton-Brown Rahman Syndrome (1)
Tay-Sachs (2)
Tay-Sachs disease (1)
Tay-Sachs disease, B variant, infantile form (1)
TBL1XR1 - Related Disorder (1)
Tenosynovial giant cell tumor (1)
Tethered Cord Syndrome (2)
Tetrasomy 15q26 (1)
Thalassemia (1)
Thoracic outlet compression syndrome (1)
Thoracic outlet syndrome (2)
Thrombotic thrombocytopenic purpura (1)
Thymoma (2)
Tibial hemimelia, unilateral (1)
Tirosinemia Tipo 1 (1)
Tlk2 (1)
TMAU (1)
Tracheobronchomalacia, ehlers danlos syndrome (1)
Transient Global Amnesia (1)
Transverse Myelitis, (3)
Treacher-Collins syndrome (1)
Trichothiodystrophy (2)
Trigeminal neuralgia (6)
TRIM8 related disroder (rare genetic) (1)
Trimethylaminuria (2)
Trimetilaminuria (1)
TRIO Related Intellectual Disability (1)
Triple A syndrome (1)
Trisomy 18 (2)
TTP (2)
TUBB4-A related leukodystrophy (1)
Tuberous Sclerosis (1)
Tuberous sclerosis complex (6)
Tuberous Sclerosis Complex (TSC) (1)
Tumor induced osteomalacia (1)
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) (1)
Turner's disease (1)
Twin Anaemia Polycythemia Sequence (1)
Tyrosinemia (1)
UBA5 Disorder (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 genetic condition, Guillain Barre Syndrome, Rhabdomyosarcoma (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)
Undifferentiated Connective Tissue Disease aka mild lupus (1)
Urea Cycle Disorder ASA (1)
Usp7 gene (1)
Uveitis (1)
VACTERL association (2)
VACTERL syndrome (1)
Vacterl, Tibia Hemimelie, Tethered Cord, Syrinx (1)
VARS (1)
Vascular Ehlers Danlos Syndrome and Brittle Cornea Syndrome (1)
Vascular Elhers Danlos Syndrome (1)
Vasculitis (4)
Vasculitis, Raynaud's Disease (1)
Vertebrobasilar dolichoectasia (1)
VHL (Von Hippel Lindau) (1)
Visual snow syndrome (5)
VLCAD deficiency (2)
Vogt-Koyanagi-Harada disease (2)
Von Hippel Lindau Disease (1)
Von Hippel-Lindau syndrome (1)
Von Willebrand Disease (1)
Vulvar lymphangioma (1)
Waardenburg syndrome (1)
WAGR syndrome (2)
Waldenstrom's Macroglobulinemia (1)
Wegener granulomatosis (1)
Wegener's granulomatosis (2)
WHIM Syndrome (1)
Whistling face syndrome (1)
White-Sutton syndrome (1)
Wiedemann-Steiner syndrome (1)
Williams syndrome (19)
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 Adrenoleukodystrophy (1)
X-linked hypophosphatemia (XLH) (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)
Мышечная дистрофия Дюшенна (1)
