Related by context. All words. (Click for frequent words.) 72 progeria 66 progeria rare 64 Angelman Syndrome 64 Hutchinson Gilford Progeria 60 Spinal Muscular Atrophy SMA 60 mitochondrial disease 60 Progeria Research 60 chromosomal disorder 60 chromosomal defect 59 Sanfilippo syndrome 59 genetic disorder 59 Hutchinson Gilford progeria 59 degenerative disorder 59 Rett Syndrome 59 Fragile X Syndrome 59 spinal muscular atrophy SMA 59 Sanfilippo Syndrome 59 fatal neuromuscular disorder 58 DiGeorge Syndrome 58 Spinal Muscular Atrophy 58 Angelman syndrome 58 cystic fibrosis 58 Rett syndrome 58 ataxia telangiectasia 58 Leber congenital amaurosis LCA 58 Leber congenital amaurosis 58 HGPS 58 JAK mutations 58 Usher Syndrome 58 Friedreich ataxia 57 Duchenne Muscular Dystrophy 57 Leber Congenital Amaurosis LCA 57 Joubert syndrome 57 progressive neurodegenerative disorder 57 Hutchinson Gilford Progeria Syndrome 57 Dravet syndrome 57 Muscular dystrophy 57 Pompe Disease 57 Retinoblastoma 57 Fanconi anemia 56 dyskeratosis congenita 56 inherited neurodegenerative disorder 56 neurofibromatosis 56 Fanconi Anemia 56 Wilms tumor 56 histiocytosis 56 Hurler syndrome 56 neurodegenerative disorder 56 Kawasaki Disease 56 neurological disorder affecting 56 myotonic dystrophy 56 Tuberous Sclerosis 56 neuro developmental disorder 55 genetic syndromes 55 Adrenoleukodystrophy 55 hypothalamic hamartoma 55 degenerative neurological disease 55 VCFS 55 brain malformation 55 congenital deafness 55 Hemochromatosis 55 mitochondrial dysfunction 55 Joubert Syndrome 55 Brugada Syndrome 55 Aicardi syndrome 55 renovascular hypertension 55 Medulloblastoma 55 degenerative neurological disorder 55 genetic defect 55 Duchenne muscular dystrophy 55 leukemia ALL 55 spinocerebellar ataxia 55 Marfan Syndrome 55 FSGS 55 astrocytomas 55 Duchenne Muscular Dystrophy DMD 55 inherited neurological disorder 55 leukodystrophy 55 Tay Sachs disease 55 Crouzon Syndrome 54 lymphoblastic lymphoma 54 mitochondrial diseases 54 DiGeorge syndrome 54 incurable genetic 54 DIPG 54 neuroblastoma 54 fatal neurodegenerative disorder 54 Kufs disease 54 Krabbe Disease 54 ependymoma 54 Polycystic Kidney Disease 54 Niemann Pick disease 54 medulloblastoma tumors 54 lymphoblastic leukemia 54 Loeys Dietz syndrome 54 neurological disorder 54 Retinopathy 54 Trisomy 54 nonsense mutation 54 CHARGE syndrome 54 Usher syndrome 54 Sudden Unexplained Death 54 ectodermal dysplasia 54 chromosome abnormality 54 limb girdle muscular dystrophy 54 holoprosencephaly 54 LRRK2 mutations 54 ADPKD 54 Alzheimers disease 54 LQTS 54 juvenile myelomonocytic leukemia 54 Acute Lymphoblastic Leukaemia 54 Duchenne 54 biliary atresia 54 hepatoblastoma 54 Rhabdomyosarcoma 54 ARVD 53 fibrodysplasia ossificans progressiva 53 Lafora disease 53 Hirschsprung disease 53 epidermolysis bullosa EB 53 TTR amyloidosis 53 Osteosarcoma 53 FTLD 53 Krabbe disease 53 retinal dysfunction 53 Wiskott Aldrich Syndrome 53 beta thalassemia 53 Pompe disease rare 53 Biliary Atresia 53 Glioblastoma 53 Cardiomyopathy 53 immunodeficiency disease 53 mitochondrial disorders 53 NF2 53 pseudotumor cerebri 53 Becker muscular dystrophy 53 incurable neurodegenerative disease 53 Aicardi Syndrome 53 smoldering myeloma 53 Ataxia Telangiectasia 53 Spinal muscular atrophy 53 Krabbe Leukodystrophy 53 Hurler Syndrome 53 muscular dystrophy 53 Cockayne syndrome 53 JMML 53 lymphangioleiomyomatosis LAM 53 multisystem disease 53 enzyme deficiency 53 progressive neurodegenerative 52 Histiocytosis 52 Acute Leukemia 52 genetic abnormality 52 lysosomal storage diseases 52 rhabdomyosarcoma 52 Mitochondrial Disease 52 sporadic ALS 52 Polycystic kidney disease 52 spinal muscular atrophy 52 neurodevelopmental disorder 52 causative gene 52 Transverse Myelitis 52 Myotonic dystrophy 52 cystic fibrosis CF 52 aciduria 52 NF1 52 neuro degenerative disorder 52 MGUS 52 de novo mutations 52 Severe Combined Immunodeficiency 52 Wilms tumors 52 Neuroblastoma 52 congenital disorders 52 Duchenne Becker 52 myelogenous leukemia 52 chromosome deletion 52 Noonan Syndrome 52 neuromuscular disease 52 Tay Sachs Disease 52 MCAD deficiency 52 Retinitis Pigmentosa RP 52 immunodeficiency 52 Aplastic anemia 52 motor neuron diseases 52 acute myelogenous leukemia AML 52 Mitochondrial diseases 52 metabolic disorder 52 Nephrotic Syndrome 52 progressive neurodegenerative disease 52 Spina bifida 52 neurodevelopment disorder 52 nephrosis 52 congenital blindness 52 inherited neurodegenerative 52 eosinophilic esophagitis 52 Acute Myelogenous Leukemia 52 hereditary deafness 52 Fragile X syndrome 52 neurobiological disorder 52 sickle cell disease 52 MELAS 52 ADA SCID 52 disorder thalassemia 52 Marfan syndrome 52 Fibrosis 52 Alport syndrome 52 Tuberous Sclerosis Complex 52 Cystic Fibrosis 52 Leber Hereditary Optic Neuropathy 52 motor neurone 52 sCJD 52 NPHP 52 leukemia 52 degenerative neuromuscular disease 52 fronto temporal dementia 52 Niemann Pick 52 Acute myeloid leukemia 52 autosomal dominant disorder 52 tuberous sclerosis complex 52 Chronic lymphocytic leukemia 52 Brittle Bone 52 galactosemia 52 biliary atresia rare 52 carcinoid 52 adrenoleukodystrophy ALD 52 progressive neurological disorder 52 Savant Syndrome 52 adrenoleukodystrophy 51 Morquio syndrome 51 Wilm Tumor 51 muscular dystrophy cystic fibrosis 51 Cystic fibrosis 51 Arnold Chiari Malformation 51 Porphyria 51 Chiari Malformation 51 Alport Syndrome 51 Duchenne muscular dystrophy DMD 51 Congenital Adrenal Hyperplasia 51 Parkinsons Disease 51 Fragile X. 51 Cystic Fibrosis CF 51 enterocolitis 51 AAT Deficiency 51 bronchopulmonary dysplasia 51 hemophagocytic lymphohistiocytosis 51 immunodeficiency disorder 51 von Hippel Lindau 51 Hereditary angioedema 51 xeroderma pigmentosum 51 Rubinstein Taybi syndrome 51 CdLS 51 Cholangiocarcinoma 51 SADS 51 Proteus Syndrome 51 Pre eclampsia 51 syringomyelia 51 autosomal dominant 51 fatal neurodegenerative 51 MCADD 51 paraneoplastic 51 thalassemia 51 Hypophosphatasia 51 aneuploidies 51 MYH9 gene 51 dysautonomia 51 hemolytic anemia 51 Lateral Sclerosis 51 neuropsychiatric disorder 51 blastoma 51 1 Antitrypsin Deficiency 51 chromosomal anomaly 51 Diffuse Intrinsic Pontine Glioma 51 neurodegenerative disease 51 AAT deficiency 51 TTTS 51 chronic granulomatous disease 51 leukodystrophies 51 congenital disorder 51 tuberous sclerosis 51 Ectodermal Dysplasia 51 Sudden Arrhythmia Death 51 primary ciliary dyskinesia 51 dominantly inherited 51 autosomal recessive 51 diffuse pontine glioma 51 Acute Respiratory Failure 51 neurofibromatosis type 51 congenital muscular dystrophy 51 Preeclampsia 51 Acute Myeloid Leukaemia AML 51 polycystic kidneys 51 inherited mutations 51 neuroblastomas 51 progressive neuromuscular 51 primary immunodeficiency 51 motor neuron disease 51 hereditary disorder 51 cystic kidney 51 Glioma 51 Duchene Muscular Dystrophy 51 Normal Pressure Hydrocephalus 51 Marfan 51 Wegener granulomatosis 51 myeloproliferative neoplasms 51 severe aplastic anemia 51 Guillain Barré Syndrome 51 Acidosis 51 Down syndrome 51 Cockayne Syndrome 51 irreversible blindness 51 Coeliac disease 51 mitochondrial myopathy 51 Essential Tremor 51 retinoblastoma 51 Neurofibromatosis 50 monoclonal gammopathy 50 progressive degenerative 50 Moebius Syndrome 50 Chiari malformation 50 medulloblastoma 50 prosopagnosia 50 chromosomal abnormality 50 complex neurobiological disorder 50 Severe Primary IGFD 50 Wilm tumor 50 Wilms Tumor 50 recessive dystrophic epidermolysis bullosa 50 chronic autoimmune disorder 50 fibrodysplasia ossificans progressiva FOP 50 genetically inherited 50 Sandhoff disease 50 familial ALS 50 Diamond Blackfan anemia 50 Pelizaeus Merzbacher disease 50 Aortic stenosis 50 chromosomal disorders 50 childhood disintegrative disorder 50 Hydrocephalus 50 Hashimoto thyroiditis 50 Burkitt lymphoma 50 autism 50 Friedreich Ataxia 50 Fanconi anemia rare 50 juvenile dermatomyositis 50 Huntington Disease 50 MECP2 gene 50 Peanut allergy 50 achromatopsia 50 Acute lymphoblastic leukemia 50 Diabetic retinopathy 50 osteosarcoma bone 50 spontaneous mutations 50 hereditary blindness 50 Acute Lymphoblastic Leukemia 50 cerebellar hypoplasia 50 Pleural mesothelioma 50 Kleine Levin 50 autosomal recessive disease 50 Carcinoid 50 causative genes 50 Cystic fibrosis CF 50 Arrhythmogenic Right Ventricular Cardiomyopathy 50 molecular abnormalities 50 Childhood Disorder 50 Synovial sarcoma 50 congenital adrenal hyperplasia CAH 50 immunodeficiencies 50 juvenile diabetes 50 Alopecia Areata 50 rare chromosomal disorder 50 Niemann Pick Disease 50 Acute Lymphocytic Leukemia 50 retinal degenerative disease 50 muscle degeneration 50 autism neurological disorder 50 autism spectrum disorders 50 ApoE gene 50 septo optic dysplasia 50 Male pattern baldness 50 Diamond Blackfan Anemia 50 diffuse intrinsic pontine glioma 50 aspergers syndrome 50 Aortic dissection 50 idiopathic generalized epilepsy 50 spastic diplegia 50 Hypoplastic Left Heart 50 recessive genetic 50 Angelman 50 Lou Gherig disease 50 leukoencephalopathy 50 progressive degenerative neurological 50 mitochondrial mutations 50 hypophosphatasia 50 Beta thalassemia 50 Perthes disease 50 myelodysplasia 50 Thalassemia 50 Duchene muscular dystrophy 50 medulloblastomas 50 CHDs 50 hereditary degenerative 50 neuroblastoma tumor 50 Idiopathic pulmonary fibrosis 50 metachromatic leukodystrophy 50 Bardet Biedl syndrome 49 nonhereditary 49 T1DM 49 proband 49 autoinflammatory diseases 49 Peutz Jeghers syndrome 49 Hemophilia B 49 Tourette syndrome 49 neurofibromatosis genetic disorder 49 epidermolysis bullosa 49 G#S mutation 49 Fragile X 49 ASDs 49 myelodysplastic syndrome MDS 49 Retinitis pigmentosa 49 degenerative neurological diseases 49 Syringomyelia 49 acute myeloid 49 retinal blastoma 49 cystic fibrosis muscular dystrophy 49 Myocarditis 49 Neurofibromatosis Type 49 Sudden Arrhythmic Death 49 Li Fraumeni syndrome 49 Alagille syndrome 49 Barth Syndrome 49 HHV 6 49 ataxia telangiectasia AT 49 cystinosis 49 Batten Disease 49 myeloproliferative neoplasms MPNs 49 fatal neurological disorder 49 Rett syndrome neurological disorder 49 frontotemporal dementia 49 gene mutation 49 Autoimmune disorders 49 Aspergers syndrome 49 Huntington Chorea 49 craniosynostosis 49 Leber Congenital Amaurosis 49 fungal meningitis 49 autoimmune encephalitis 49 developmental abnormalities 49 Burkitt Lymphoma 49 autism spectrum disorder 49 retinitis pigmentosa RP 49 hematologic disorders 49 familial hypercholesterolemia 49 atypical hemolytic uremic syndrome 49 common disabling neurological 49 polymorphic ventricular tachycardia 49 MPS VI 49 systemic amyloidosis 49 Pulmonary hypertension 49 Leukodystrophy 49 VHL 49 Macular degeneration 49 rheumatic disease 49 retinitis pigmentosa hereditary 49 RDEB 49 Autism Spectrum Disorder ASD 49 DiGeorge syndrome rare 49 idiopathic thrombocytopenic purpura 49 Amyotrophic lateral sclerosis ALS 49 huntingtin gene 49 CDH1 49 Diabetic neuropathy 49 facioscapulohumeral muscular dystrophy 49 lateral sclerosis ALS 49 osteogenesis imperfecta 49 ALS 49 Proteus syndrome 49 Cystinosis 49 hydrops 49 Asperger Disorder 49 Morquio Syndrome 49 hereditary predisposition 49 neurofibromas 49 Hypertrophic cardiomyopathy 49 inherited retinal degeneration 49 Sarcoidosis 49 Newborn screening 49 neurodevelopmental disorders 49 PIDD 49 prenatally diagnosed 49 Osteogenesis imperfecta 49 Lung transplantation 49 hereditary spastic paraplegia 49 neuro degenerative disease 49 Wegener Granulomatosis 49 genetic neuromuscular disorder 49 PCNSL 49 Sickle cell 49 leukaemias 49 PANDAS 49 Gliomas 49 PTLD 49 PDD NOS 49 mitochondrial disorder 49 SEGAs 49 Cerebral malaria 49 retinal degeneration 49 genetic mutation 49 primitive neuroectodermal tumors 49 disabling neurological 49 myositis 49 neurobehavioral disorder 49 Myositis 49 ATTR PN 49 Parkinson Disease PD 49 familial adenomatous polyposis 49 Alzheimer pathology 49 chiari malformation 49 Chordoma 49 profound deafness 49 alzheimer 49 Myelodysplasia 49 atypical rhabdoid tumor 48 incurable neurological disorder 48 immuno deficiency 48 imperfecta 48 Testicular cancer 48 LRAT 48 lysosomal diseases 48 MYCN amplification 48 Alzheimer disease AD 48 acute lymphoid leukemia 48 Premature Ovarian Failure 48 Cytomegalovirus 48 Spasticity 48 Pompe disease 48 Apert syndrome 48 unprovoked seizures 48 Crigler Najjar syndrome 48 genetic abnormalities 48 Rotavirus infection 48 debilitating autoimmune 48 incurable hereditary 48 HELLP 48 alzheimer disease 48 Pulmonary arterial hypertension 48 skeletal dysplasia 48 frontotemporal dementia FTD 48 Philadelphia Chromosome Positive 48 ependymomas 48 McCune Albright 48 dilated cardiomyopathy 48 acute myelogenous leukemia 48 leukemia AML 48 congenital heart 48 Von Hippel Lindau 48 demyelinating disorders 48 Cooley Anemia 48 homocystinuria 48 Psoriatic arthritis 48 autosomal dominant polycystic kidney 48 Spinal cord injury 48 Inflammatory Bowel 48 Acromegaly 48 Idiopathic Thrombocytopenic Purpura ITP 48 Fabry Disease 48 cardiac channelopathies 48 cortical dysplasia 48 Krabbe leukodystrophy 48 Thalassaemia 48 Langerhans Cell Histiocytosis 48 Motor neurone disease 48 Kate Sofia Vassilieva 48 GBM tumors 48 Hypothyroidism 48 diagnose Alzheimer disease 48 autosomal recessive disorder 48 autism spectrum disorders ASDs 48 cystic fibrosis hereditary 48 pneumococcal meningitis 48 Hypospadias 48 subarachnoid haemorrhage 48 Chronic fatigue 48 Pervasive Developmental Disorder 48 Phenylketonuria PKU 48 mental retardation epilepsy 48 Dravet Syndrome 48 Pulmonary fibrosis 48 genetic defects 48 bilateral retinoblastoma 48 gastrointestinal dysfunction 48 CHD7 48 Bronchiectasis 48 acute leukemias 48 cardiac hypertrophy 48 cell acute lymphoblastic 48 Astrocytoma 48 neuroendocrine tumors 48 autosomal recessive genetic 48 Metastatic breast cancer 48 Polycystic ovary syndrome PCOS 48 VUR 48 neurofibromatosis NF 48 AML acute myeloid 48 Pneumococcal disease 48 acute lymphoblastic 48 Neurofibromatosis type 48 de ath 48 disease 48 Essential tremor 48 savant syndrome 48 Premature birth 48 eosinophilic 48 neurologic disorder 48 Parkinsons disease 48 dystrophy 48 recessively inherited 48 hypertrophic cardiomyopathy HCM 48 bacteraemia 48 Mucopolysaccharidosis 48 Parkinsons 48 Alzeimer 48 mastocytosis 48 Leukemias 48 Ataxia 48 aplastic anemia 48 dyspraxia 48 sickle cell anemia 48 Keratoconus 48 essential thrombocythemia 48 hypertrichosis 48 Maroteaux Lamy syndrome 48 congenital diaphragmatic hernia 48 susceptibility gene 48 chronic myeloid 48 Canavan Disease 48 alveolar rhabdomyosarcoma 48 mutated gene 48 chromosomal anomalies 48 spinal muscle atrophy 48 Meningiomas 48 clinically heterogeneous 48 mutations 48 neurofibroma 48 Alzheimer Disease AD 48 debilitating neurological disorder 48 Autistic Disorder 48 diabetic retinopathy DR 48 neurological abnormalities 48 acute lymphatic leukemia 48 Iron deficiency anemia 48 Ichthyosis 48 CD# mAb 48 alpha thalassemia 48 Gestational diabetes 48 myeloproliferative diseases 48 MODY 48 Klinefelter syndrome 48 haemochromatosis 48 epigenetic changes 48 Alzheimer disease 48 Cerebral palsy 48 Pompe 47 alcoholic hepatitis 47 polyomavirus nephropathy 47 Beckwith Wiedemann syndrome 47 cerebri 47 defective gene 47 Lou Gerhig disease 47 bladder exstrophy 47 Apert Syndrome 47 WAGR syndrome 47 Dysplasia 47 Neuroblastoma Cancer 47 vasculopathy 47 Prader Willi syndrome 47 static encephalopathy 47 nephritis 47 Restless Legs Syndrome 47 Parkinson disease neurological disorder 47 dysgenesis 47 Acute Myeloid Leukaemia 47 Pneumococcal meningitis 47 Periodontal disease 47 Mermaid Syndrome 47 medulloblastoma malignant brain tumor 47 idiopathic PAH 47 mosaicism 47 Autism 47 Meckel Gruber 47 situs inversus 47 glomerulonephritis 47 autism spectrum 47 Amyloidosis 47 Major depressive disorder 47 epilepsies 47 Obsessive compulsive disorder 47 Mitochondrial disease 47 idiopathic epilepsy 47 National Alopecia Areata 47 CMV infection 47 psychosocial dwarfism 47 Von Willebrand disease 47 myeloid leukemia 47 Insulin resistance 47 hypereosinophilic syndrome 47 Ewing sarcoma bone 47 velo cardio facial 47 autism spectrum disorders ASD 47 sirenomelia 47 ocular albinism 47 1 diabetes T1D 47 sickle cell 47 autoinflammatory 47 genetic disorders 47 Sturge Weber syndrome 47 Tuberous sclerosis 47 inappropriate antidiuretic hormone SIADH 47 inflammatory demyelinating 47 Glioblastoma multiforme GBM 47 paraganglioma 47 myasthenia gravis MG 47 hereditary hemorrhagic telangiectasia 47 primary biliary cirrhosis 47 fatal myelination disorder 47 Guillain Barre Syndrome GBS 47 Parkinson disease neurodegenerative disorder 47 Dengue Shock 47 epilepsy 47 Idiopathic Pulmonary Fibrosis IPF 47 RSV infections 47 variable immunodeficiency 47 congenital anomaly 47 Sjögren syndrome 47 astrocytoma 47 Smith Lemli Opitz 47 RPE# 47 SIDS Sudden Infant Death 47 Beckwith Wiedemann Syndrome 47 gene MECP2 47 pheochromocytoma 47 polycystic kidney disease 47 atypical parkinsonism 47 choriocarcinoma 47 Six3 47 Alzheimer disease pathology 47 breast cancer metastasis 47 subclinical hypothyroidism 47 telomeres shorten 47 prematurity ROP 47 GH deficiency 47 Long QT Syndrome 47 chronic myelogenous leukemia CML 47 pediatric brain tumor 47 CNTNAP2 47 Goldenhar syndrome 47 ichthyosis 47 FXTAS 47 Autism Spectrum Disorders ASD 47 Hemolytic Uremic Syndrome HUS 47 Hirschsprung Disease 47 X SCID 47 Downs Syndrome 47 lymphocytic leukemia 47 progressive supranuclear palsy 47 ceroid lipofuscinosis NCL 47 Holoprosencephaly 47 autistic regression 47 Epstein Barr Virus 47 congenital anomalies 47 ALS Amyotrophic Lateral Sclerosis 47 roseola 47 epigenetic alterations 47 Myasthenia gravis 47 RET PTC rearrangements 47 Polycystic Ovary Syndrome 47 Fatty liver 47 Lewy Body Dementia 47 Psoriasis 47 vWD 47 Endometrial cancer 47 Down syndrome chromosomal disorder 47 dimentia 47 diabetic kidney 47 degenerative nerve disorder 47 Hereditary angioedema HAE 47 Synovial Sarcoma 47 Graft Versus Host 47 neurodevelopmental disorder characterized 47 abnormal chromosomes 47 Churg Strauss syndrome 47 PNET 47 germline mutations 47 heterotaxy 47 CALHM1 47 medium chain acyl 47 monogenic 47 Juvenile Rheumatoid Arthritis 47 osteogenic sarcoma 47 Prion diseases 47 Acute lymphocytic leukemia 47 hereditary disorders 47 mtDNA mutations 47 idiopathic pulmonary arterial hypertension 47 PTEN mutations 47 chronic neurological disorder 47 cystic fibrosis chronic pancreatitis 47 teratoma 47 Sjogren Syndrome 47 acquired immunodeficiency syndrome 47 oligodendrogliomas 47 chronic degenerative neurological 47 tricuspid atresia 47 synovial sarcoma 47 muscular dystrophies 47 multiforme 47 mutated genes 47 KIBRA 47 Glioblastoma Multiforme 47 inherited degenerative 47 hemoglobinopathies 47 carcinoid cancer 47 CHD CVD 47 incurable neurological disease 47 congenital cataract 47 motor neuron degeneration 47 myopathies 47 Chronic myeloid leukemia CML 47 microvascular angina 47 myotonic muscular dystrophy 47 Ulcerative colitis 47 alopecia areata 47 IPAH 47 acute lymphoblastic leukemia 47 NKX2 47 Dilated cardiomyopathy 47 Obstructive sleep apnea 47 Dwarfism 47 ductal adenocarcinoma 47 dwarfism 47 lacunar 47 optic atrophy 47 acute myeloid leukemia 47 scleroderma 47 Treacher Collins Syndrome 47 thoracic aortic aneurysm 47 Ectopia Cordis 47 Lorenzo Odone 46 Myasthenia 46 CMV infections 46 Austism 46 Anaemia 46 NOTCH1 46 defects CHDs 46 GPC5 46 Oesophageal cancer 46 embryonal rhabdomyosarcoma 46 developmental disorder 46 Myelodysplastic syndromes MDS 46 Crohns disease 46 optic nerve hypoplasia 46 Congenital Diaphragmatic Hernia 46 Stargardt Macular Dystrophy 46 Frontotemporal Dementia 46 metabolic abnormality 46 undiagnosed celiac disease 46 degenerative muscular 46 idiopathic pulmonary 46 progressive retinal degenerative 46 Amyotrophic lateral sclerosis 46 nonsense mutations 46 clotting disorder 46 mutation 46 Maroteaux Lamy Syndrome 46 Chronic Myeloid Leukemia 46 myelomeningocele 46 fatal neuromuscular 46 lupus 46 NOMID 46 pyloric stenosis 46 respiratory viral infections 46 chronic hepatitis cirrhosis 46 Kabuki syndrome 46 Chronic lymphocytic leukemia CLL 46 demyelinating diseases 46 microdeletion 46 Kaposi sarcoma 46 kidney disease 46 osteosarcomas 46 Growth Hormone Deficiency 46 Anaplastic 46 Mitochondrial 46 Anencephaly 46 Beta Thalassemia 46 MeCP2 gene 46 nasopharyngeal carcinoma NPC 46 genetic determinants 46 spinocerebellar ataxia type 46 Meningococcal disease 46 debilitating neuromuscular 46 genomic variants 46 Alzheimer Dementia 46 FASPS 46 proliferative retinopathy 46 VHL gene 46 fibrous dysplasia 46 congenital hypothyroidism 46 recessive inheritance 46 progressive neurologic 46 cerebral palsy Down syndrome 46 progressive degeneration 46 familial pancreatic cancer 46 familial hypercholesterolaemia FH 46 Lesch Nyhan syndrome 46 cystic fibrosis sickle cell 46 Tay Sachs 46 esophageal atresia 46 Persistent Sexual Arousal 46 Appendicitis 46 achondroplasia 46 chromosomal defects 46 chromosomal rearrangement 46 homozygous FH 46 lissencephaly 46 leukemia lymphoma myeloma 46 nodular melanoma 46 Lou Gehrigs disease 46 Carcinoid tumors 46 nasopharyngeal carcinoma 46 Autism Spectrum Disorder 46 Congestive heart failure 46 autonomic neuropathy 46 Sjögren Syndrome 46 familial dysautonomia 46 MPGN 46 transfusion syndrome 46 Alzheimer 46 PKU genetic 46 angiosarcoma 46 acute promyelocytic leukemia 46 Genetic mutations 46 CIDP 46 Langerhans cell histiocytosis 46 MYH9 46 ciliopathies 46 Reactive Attachment Disorder 46 precursor acute lymphoblastic 46 Oxidative stress 46 Cryptococcus neoformans 46 BRAF gene 46 Myopathy 46 Charcot Marie Tooth 46 abnormal hemoglobin 46 TACI mutations 46 non hodgkins lymphoma 46 Parkinson Disease 46 Osteogenesis Imperfecta 46 neurodegeneration 46 Meningioma 46 post transplant lymphoproliferative 46 Latent TB 46 chromosome abnormalities 46 herpesviruses 46 Fanconi anemia FA 46 glycogen synthase kinase 46 Epstein Barr virus 46 Pervasive Developmental Disorders 46 Farrah Fawcett dies 46 Eisenmenger syndrome 46 Immune Deficiency 46 Velculescu 46 Myelodysplastic syndrome 46 Glioblastomas 46 carcinoid tumors 46 elevated triglyceride levels 46 Sarcopenia 46 neuropathologic 46 Dystonia 46 Gastric cancer 46 Alzheimers Disease 46 genetic mutations 46 thalassemic 46 dystrophies 46 APOE4 46 primitive neuroectodermal tumor 46 hemolytic uremic syndrome HUS 46 Alzhiemer 46 Nephrogenic Systemic Fibrosis NSF 46 Pleural Mesothelioma 46 hydrocephalus 46 arthrogryposis 46 congenital abnormality 46 testicular germ cell 46 Primary IGFD 46 debilitating neurodegenerative 46 HIBM 46 cerebral malaria 46 Menkes disease 46 dysphasia