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(Click for frequent words.) 66 holoprosencephaly 63 hydrops 63 nerve degeneration 63 muscle actin 62 Apert syndrome 62 osteopetrosis 61 skeletal dysplasia 61 chromosome abnormality 61 dyskeratosis congenita 61 thyroid hormone deficiency 61 dysgenesis 61 brain malformation 60 dominantly inherited 60 Hurler syndrome 60 autosomal dominant 60 rare chromosomal disorder 60 myelomeningocele 60 recessive trait 60 hypoplasia 60 congenital disorder 60 RPE# 59 Leber congenital amaurosis 59 situs inversus 59 DiGeorge syndrome 59 autosomal recessive 59 inherited mutations 59 Angelman syndrome 59 aneuploidies 59 spastic diplegia 59 Leber hereditary optic neuropathy 59 pyelonephritis 59 myotonic dystrophy 58 Spina bifida 58 atresia 58 inherited neurological disorder 58 HGPS 58 polydactyly 58 achromatopsia 58 Brugada Syndrome 58 Joubert syndrome 58 motor neuron degeneration 58 Crouzon syndrome 58 recessive dystrophic epidermolysis bullosa 58 MECP2 gene 58 retinal dysfunction 58 mental retardation epilepsy 58 neural tube 58 aniridia 58 chromosomal disorder 58 CHD7 58 anencephaly 58 galactosemia 57 Fanconi anemia 57 Hutchinson Gilford progeria 57 cortical dysplasia 57 transfusion syndrome 57 agenesis 57 CFTR gene 57 phthalate syndrome 57 VCFS 57 embryonal rhabdomyosarcoma 57 DiGeorge Syndrome 57 chromosomal defect 57 Cockayne syndrome 57 cerebri 57 hypotonia 57 ANCA associated 57 congenital disorders 57 hypertrophic cardiomyopathy HCM 57 ectodermal dysplasia 57 Epidermolysis bullosa 57 inherited retinal degeneration 57 hypoplastic 57 Dysplasia 57 neurological abnormalities 57 hyperkeratosis 57 childhood disintegrative disorder 57 dysmorphic features 57 Leber congenital amaurosis LCA 57 FMR1 gene 57 beta globin gene 57 congenital abnormality 56 CHARGE syndrome 56 podocytes 56 myelination 56 infantile hemangiomas 56 polydactylism 56 fibroma 56 leiomyoma 56 Purkinje cells 56 autosomal dominant disorder 56 filaggrin 56 Beckwith Wiedemann syndrome 56 Rubinstein Taybi syndrome 56 autosomal recessive disorder 56 diaphragmatic hernia 56 Crouzon Syndrome 56 degenerative disorder 56 Severe Combined Immunodeficiency 56 congenital diaphragmatic hernia 56 behavioral abnormalities 56 Osteogenesis imperfecta 56 neurofibroma 56 dystrophy 56 Meckel Gruber 56 bone deformities 56 Joubert syndromes 56 chromosomal disorders 56 neuritic 56 optic nerve hypoplasia 56 Hirschsprung disease 56 bladder exstrophy 56 Treacher Collins syndrome 56 lymphatic vasculature 56 Anencephaly 56 cerebellar hypoplasia 56 SHANK3 56 autosomal dominant polycystic kidney 56 arthrogryposis 56 Dravet syndrome 56 Hemangiomas 56 fibrous dysplasia 56 NF1 56 abnormalities 56 neuromotor 56 muscle hypertrophy 56 FXTAS 56 NF2 56 de novo mutations 56 Radiographic findings 56 desmosomes 56 torticollis 56 gene MECP2 56 incurable genetic 56 dysmotility 56 Menkes disease 55 fibromatosis 55 imperfecta 55 WAGR syndrome 55 Hip dysplasia 55 muscle degeneration 55 RDEB 55 recessive mutation 55 Von Willebrand disease 55 nonhereditary 55 pyloric stenosis 55 Sonic hedgehog 55 congenital scoliosis 55 pituitary adenoma 55 hydrocephaly 55 Morquio syndrome 55 primary ciliary dyskinesia 55 hypoxic ischemic encephalopathy 55 enterocolitis 55 Lafora disease 55 fibrodysplasia ossificans progressiva FOP 55 genetic defect 55 glomerulonephritis 55 thoracic aortic aneurysm 55 protein dystrophin 55 neural tube defect 55 ADPKD 55 limb deformities 55 progressive neurodegenerative disorder 55 osteogenesis imperfecta 55 dystrophies 55 genetic syndromes 55 truncus arteriosus 55 Lesch Nyhan syndrome 55 recessive inheritance 55 clefting 55 immunodeficiency disorder 55 Bardet Biedl syndrome 55 genetic abnormality 55 LIS1 55 CDH1 55 Becker muscular dystrophy 55 Genetic mutations 55 malformations 55 dermoid cyst 55 combined immunodeficiency SCID 55 malformation 55 teratoma 55 degenerative neurological disorder 55 plexiform 55 superior mesenteric artery 55 RPE# gene 55 tricuspid atresia 55 heterotaxy 55 chromosomal rearrangement 55 septo optic dysplasia 55 tics involuntary 55 bullous 55 Klinefelter syndrome 55 Moebius syndrome 55 pulmonary atresia 55 Hypoplastic Left Heart 55 hamartoma 55 pigmentosa 55 sporadic ALS 55 Intussusception 55 hereditary deafness 55 HMGA2 55 arthrogryposis multiplex congenita 55 chromosomal anomaly 55 striated muscle 55 transection 55 polycystic kidneys 55 proliferative retinopathy 55 Kufs disease 55 mosaicism 55 developmental abnormalities 55 neurological disorder affecting 55 Neurofibromatosis type 54 deafness blindness 54 skeletal abnormalities 54 blastoma 54 meningeal 54 autoimmune encephalitis 54 Ehlers Danlos syndrome 54 Hutchinson Gilford Progeria Syndrome 54 genetic mutation 54 molar pregnancy 54 microdeletion 54 fatal neurodegenerative disorder 54 generalized dystonia 54 recessive genetic 54 polycystic 54 neurodevelopment disorder 54 bradykinesia 54 Meckel Gruber syndrome 54 Langerhans cell histiocytosis 54 Hypophosphatasia 54 chromosome abnormalities 54 neurological dysfunction 54 degenerative retinal disease 54 MC4R gene 54 Wolf Hirschhorn 54 atrioventricular septal defect 54 neuropathologic 54 Alagille syndrome 54 syndrome FAS 54 occipital regions 54 congenital blindness 54 retinal dystrophy 54 leukoencephalopathy 54 autosomal dominant inheritance 54 von Hippel Lindau 54 retinal degeneration 54 DISC1 gene 54 SHANK3 gene 54 Prox1 54 Raynaud disease 54 intracerebral 54 ocular albinism 54 Sjögren syndrome 54 genetic imprinting 54 beta thalassemia 54 retinitis pigmentosa RP 54 cerebral arteries 54 congenital glaucoma 54 necrotizing enterocolitis 54 electrical conduction 54 systemic amyloidosis 54 hereditary disorder 54 incurable neurological disorder 54 mesenteric 54 Brugada syndrome 54 epidermolysis bullosa EB 54 Cysts 54 static encephalopathy 54 severe congenital neutropenia 54 auditory neuropathy 54 dystrophin protein 54 progressive degeneration 54 Arnold Chiari Malformation 54 synaptic function 54 MC1R 54 hematological abnormalities 54 eosinophilic 54 limb deformity 54 neurodevelopmental disorder 54 neurofibrillary 54 myotonia 54 trisomy 54 atherosclerotic lesion 54 ichthyosis 54 multisystem disease 54 biliary atresia 54 Li Fraumeni syndrome 54 mitochondrial dysfunction 54 roseola 54 mice lacking 54 DiGeorge syndrome rare 54 ectoderm 54 polyomavirus nephropathy 54 cystic fibrosis chronic pancreatitis 54 Chiari malformation 54 congenital anomaly 54 cholestasis 54 neurofibromas 54 MEF2A 54 karyotypes 54 Alport syndrome 54 neurofibromatosis type 54 genetic disorder 54 prematurity ROP 54 chromosome deletion 54 chronic granulomatous disease 54 microcephalin 54 Marfan syndrome connective tissue 54 hyperinsulinism 54 hemiplegia 53 chromosomal imbalance 53 PNET 53 Spinal muscular atrophy 53 WDR# 53 involuntary tics 53 spinocerebellar ataxia 53 synovial 53 LRAT 53 frontotemporal 53 leiomyomas 53 Holoprosencephaly 53 spastic paraplegia 53 dilated cardiomyopathy 53 hypogonadotropic hypogonadism 53 Leber Congenital Amaurosis LCA 53 spinal muscle atrophy 53 antibody IgE 53 chromosome rearrangements 53 hamartomas 53 #q# deletion 53 gastrulation 53 fatty infiltration 53 myelopathy 53 neuronal dysfunction 53 polyhydramnios 53 Hypertrophic cardiomyopathy 53 karyotype 53 Ectopia Cordis 53 muscle rigidity 53 Retinoblastoma 53 Retinopathy 53 disease epidermolysis bullosa 53 deafness neurological 53 Shy Drager syndrome 53 incurable neurodegenerative disease 53 autoregulation 53 sacral agenesis 53 vascular dysfunction 53 monogenic 53 Essential tremor 53 DICER1 53 Sturge Weber syndrome 53 supratentorial 53 VHL gene 53 Sensorineural hearing loss 53 Genetic mutation 53 benign paroxysmal positional vertigo 53 aplasia 53 nonsense mutation 53 Polycystic ovary syndrome 53 synaptogenesis 53 neuropsychiatric disorder 53 Myotonic dystrophy 53 cerebellar 53 nuchal 53 exocrine 53 urinary calculi 53 fatal neurodegenerative 53 Retinal detachment 53 microcephaly 53 associated tremor ataxia 53 neurogenetic 53 esophageal atresia 53 G#S mutation 53 Down syndrome chromosomal disorder 53 myoclonic epilepsy 53 Pervasive Developmental Disorder 53 pulmonary hypoplasia 53 desmin 53 neurologic disorder 53 vermis 53 osteogenesis imperfecta OI 53 hypertrophic obstructive cardiomyopathy 53 sonographic appearance 53 euthymic patients 53 Childhood Disorder 53 Hutchinson Gilford Progeria 53 skeletal malformations 53 leptin deficiency 53 hyperreflexia 53 lateral curvature 53 Long QT syndrome 53 multisystem disorder 53 coarctation 53 hippocampal function 53 Biliary atresia 53 muscular dystrophy cystic fibrosis 53 MLL gene 53 Abnormalities 53 granulomatous 53 MECP2 53 congenital cataracts 53 mental retardation cerebral palsy 53 SCN5A 53 endocasts 53 parkin gene 53 congenital adrenal hyperplasia CAH 53 MCAD deficiency 53 congenital cataract 53 enzyme deficiency 53 medulloblastoma tumors 53 MeCP2 gene 53 medium chain acyl 53 mental retardation blindness 53 Malformation 53 hyperplastic 53 corneal opacity 53 intraventricular 53 chromosomal abnormality 53 periventricular leukomalacia 53 pre eclamptic 53 interstitial fibrosis 53 Noonan Syndrome 53 neurodevelopmental disability 53 neonatal encephalopathy 53 Henoch purpura 53 Sanfilippo syndrome 53 fusiform 53 tonic clonic seizure 53 infarcts 53 missense mutation 53 Diamond Blackfan anemia 53 motor neuropathy 53 Aicardi syndrome 53 NF1 gene 53 alpha synuclein protein 52 osteoid 52 Proteus syndrome 52 kidney insufficiency 52 sexually dimorphic 52 chromosomal aberrations 52 Dwarfism 52 familial ALS 52 anencephaly fatal 52 granule cells 52 Hurler Syndrome 52 Usher syndrome 52 paralysis blindness 52 Pelizaeus Merzbacher disease 52 Sandhoff disease 52 heart syndrome HLHS 52 myopathies 52 Erb palsy 52 N myc 52 BCL#A 52 opsoclonus myoclonus syndrome 52 kyphosis 52 malperfusion 52 FTLD 52 leiomyosarcoma 52 Charcot foot 52 cystic fibrosis Duchenne muscular 52 Arrhythmogenic Right Ventricular Cardiomyopathy 52 dystrophin gene 52 elastic fibers 52 neurological sequelae 52 neonatal respiratory distress 52 discoid lupus 52 pseudotumor cerebri 52 chordate 52 VSMC 52 anterior temporal 52 metaplasia 52 sonographic examination 52 PTEN gene 52 mitral stenosis 52 edematous 52 ApoE gene 52 ataxias 52 uterus didelphys 52 retinal pigment epithelium 52 intracytoplasmic 52 MLL2 52 protein tau 52 neuro developmental disorder 52 Beckwith Wiedemann Syndrome 52 neurocysticercosis 52 petit mal seizures 52 autosomal recessive disease 52 diabetes insipidus 52 blindness paralysis 52 pre cancerous lesion 52 tau pathology 52 chromosome #q#.# [001] 52 Rh factor 52 polymorphic ventricular tachycardia 52 haemolysis 52 persistent pulmonary hypertension 52 essential thrombocythemia 52 congenital deafness 52 epidermolysis bullosa 52 Lennox Gastaut Syndrome 52 congenital anomalies 52 progressive degenerative neurological 52 Hypertrophic 52 Spina bifida occurs 52 chromosomal abnormalities 52 hereditary blindness 52 subaortic stenosis 52 FASPS 52 Six3 52 genes predisposing 52 choroidal neovascularization CNV 52 LQTS 52 phenylketonuria 52 Dystrophin 52 CRTAP 52 Neurofibromatosis Type 52 Avascular necrosis 52 CDH# 52 mutation 52 ichthyosis vulgaris 52 carcinoid tumor 52 DNA methylation patterns 52 common bile duct 52 motor neuron diseases 52 Gestational diabetes 52 cardiac fibrosis 52 hemiparesis 52 Sanfilippo Syndrome 52 HFE gene 52 Marfan syndrome 52 velo cardio facial 52 autoinflammatory 52 Pten 52 generalized epilepsy 52 bicuspid valve 52 sporadic Creutzfeldt Jakob 52 savant syndrome 52 progressive retinal degenerative 52 abnormal chromosomes 52 Moyamoya disease 52 shortened telomeres 52 gliosis 52 akinesia 52 trophoblastic 52 abnormal angiogenesis 52 mutated gene 52 syndrome FXTAS 52 rhabdomyosarcoma 52 intrauterine infection 52 STAT4 52 GISTs 52 familial adenomatous polyposis FAP 52 Systemic lupus erythematosus 52 spermatic cord 52 hereditary nonpolyposis colorectal cancer 52 microtia 52 Peutz Jeghers syndrome 52 CFTR protein 52 atrophic 52 epigenetically 52 SLC#A# gene [001] 52 Combined Immune Deficiency 52 humeral 52 spinal bifida 52 prolonged immobilization 52 spine curvature 52 filaggrin gene 52 primordia 51 craniopagus 51 protein clumps 51 mitochondrial mutations 51 Idiopathic 51 tricuspid valve 51 Marfan syndrome genetic 51 fatal neuromuscular disorder 51 papilledema 51 myelin insulation 51 Congenital 51 sensorineural hearing loss 51 lactase deficiency 51 Metastases 51 cyanosis 51 posterior fossa 51 MPGN 51 venous drainage 51 epiglottitis 51 dysplasias 51 idiopathic dilated cardiomyopathy 51 basilar 51 misregulation 51 Loeys Dietz syndrome 51 chromosomal anomalies 51 Cowden syndrome 51 chorioamnionitis 51 neurologic deficits 51 congenital cardiac 51 uremia 51 muscular atrophy 51 apoE 51 often reversible neuropsychiatric 51 Fragile X Syndrome 51 nodular lesions 51 ependymoma 51 Perthes disease 51 hypopituitarism 51 neurological degeneration 51 LHON 51 C EBP alpha 51 brain hemorrhages 51 vascular birthmarks 51 amyloid deposition 51 neurological impairments 51 intervertebral disk 51 lightheadedness fainting 51 craniofacial abnormalities 51 hemorrhagic colitis 51 calcium homeostasis 51 Hashimoto thyroiditis 51 Wernicke Korsakoff syndrome 51 progranulin gene 51 Retinitis pigmentosa 51 hemorrhagic pancreatitis 51 brachial plexus palsy 51 Neuregulin 1 51 epithelial tissues 51 myelogenous leukemia 51 neuroblastoma tumor 51 penile fibrosis 51 Eisenmenger syndrome 51 Rh incompatibility 51 Rb gene 51 OPHN1 51 causative gene 51 neuronal degeneration 51 Diabetic neuropathy 51 C1q 51 CdLS 51 post transplant lymphoproliferative 51 cerebellar ataxia 51 JMML 51 Asperger syndrome milder 51 CNTNAP2 51 syringomyelia 51 neurologic abnormalities 51 hereditary hemorrhagic telangiectasia 51 Malformations 51 trophoblasts 51 craniosynostosis 51 Pulmonary hypertension 51 apolipoprotein E gene 51 optic atrophy 51 neurosensory 51 epilepsies 51 tumoral 51 FMR1 51 Medulloblastoma 51 SMN1 51 stooped posture 51 nephron 51 spondylolysis 51 predisposing factor 51 retinitis pigmentosa degenerative 51 immunodeficiencies 51 adrenal cortex 51 inherited neurodegenerative 51 spontaneous miscarriages 51 myelodysplasia 51 chromosomal defects 51 familial adenomatous polyposis 51 optic neuropathy 51 OCA2 gene 51 microvessels 51 brachial plexus 51 atrial septal defect 51 CCR5 delta# 51 congenital defects 51 Myocarditis 51 urethral stricture 51 corpus luteum 51 myoclonus 51 villous 51 neurodegenerative disorder 51 pulmonary stenosis 51 myotonic 51 adenoid 51 vascular occlusion 51 PKU genetic 51 Prenatal diagnosis 51 luminal cells 51 frameshift mutation 51 defective gene 51 ductal adenocarcinoma 51 neurodegenerative disorder characterized 51 deformed limbs 51 stress cardiomyopathy 51 Myasthenia gravis 51 SMN protein 51 extraocular 51 disorders FASD 51 Wilms Tumor 51 sensory disturbances 51 cellular prion protein 51 toxemia 51 meningitis encephalitis 51 adenomyosis 51 chiari malformation 51 congenital abnormalities 51 congenital hypothyroidism 51 hepatic steatosis 51 trachea windpipe 51 acute colitis 51 alpha thalassemia 51 fibrodysplasia ossificans progressiva 51 hypokalemia hypomagnesemia 51 tremor slowness 51 imperforate anus 51 #q#.# [002] 51 lymphatic tissue 51 cystic kidney 51 bioengineered mice 51 secretes insulin 51 Ewing sarcoma bone 51 choriocarcinoma 51 #p#.# [001] 51 cardiac hypertrophy 51 dizygotic twins 51 spastic cerebral palsy 51 drooping eyelid 51 Lupus nephritis 51 Cystic fibrosis CF 51 ventricular septum 51 abnormal hemoglobin 51 cystic fibrosis transmembrane conductance 51 Prion proteins 51 Chiari Malformation 51 coagulopathy 51 CNTNAP2 gene 51 hemolytic disease 51 collagen VII 51 vasa previa 51 biliary atresia rare 51 corneal scarring 51 cerebral ischemia 51 JAK mutations 51 mesothelial cells 51 volvulus 51 TTR amyloidosis 51 Degenerative disc disease 51 Fanconi Anemia 51 coronary artery dissection 51 long QT syndrome 51 Wilms tumors 51 Ribavirin causes 51 epididymal 51 intestinal tissue 51 Asperger Disorder 51 lumbosacral 51 hypoperfusion 51 craniofacial deformities 51 acute aortic dissection 51 egg follicles 51 hormonal disorder 51 idiopathic pulmonary 51 nerve palsy 51 gastric carcinoma 51 retinitis pigmentosa hereditary 51 muscular dystrophies 51 brain lesions 51 atrioventricular 51 vascular malformation 51 Vangl2 51 penetrance 51 atherosclerotic lesions 51 hereditary spastic paraplegia 51 cranio 51 chromosomal instability 51 encephalitis swelling 51 embryonic tissues 51 sulci 51 multiorgan 51 achondroplasia 51 bicuspid aortic valve 51 congenital hydrocephalus 51 gene mutation 51 Muscular dystrophy 51 twin transfusion 51 ventricular septal defect 51 Congenital heart 51 systemic autoimmune 51 C#Y 51 subdural haemorrhage 50 periventricular 50 invasive secretory carcinoma 50 cerebral palsy Down syndrome 50 normal karyotype 50 infection progressive multifocal 50 neurological manifestations 50 Wiskott Aldrich Syndrome 50 leukodystrophy 50 nodular 50 tubule 50 amniotic cavity 50 Klippel Trenaunay Weber 50 Sturge Weber 50 chronic autoimmune disorder 50 G6PD deficiency 50 myostatin gene 50 Dilated cardiomyopathy 50 arteriovenous malformation AVM 50 Marfan Syndrome 50 mutant gene 50 PrPSc 50 aneuploid cells 50 neovascularisation 50 neural crest 50 neurodevelopmental disorder characterized 50 dysphasia 50 recessively inherited 50 degenerative neurological disease 50 craniofacial defects 50 osteochondrosis 50 myelin sheathing 50 autoinflammatory diseases 50 cardiac insufficiency 50 Male pattern baldness 50 interrupted aortic arch 50 TACI mutations 50 urinary blockage 50 gene rearrangements 50 Parasitic twins 50 neuroendocrine 50 myotonic muscular dystrophy 50 neuronal synapses 50 electron micrographs 50 neuro degenerative 50 metabolic derangements 50 MELAS 50 cysticercosis 50 radiographic findings 50 Hyperthyroidism 50 muscular degeneration 50 epigenetic alterations 50 upper airway obstruction 50 ciliary 50 fat malabsorption 50 hyperactivation 50 Alu RNA 50 osteochondroma 50 histopathologic examination 50 necrotizing enterocolitis NEC 50 mutant protein 50 mastocytosis 50 DiGeorge syndrome genetic 50 skeletal muscle cells 50 rhabdomyosarcoma rare cancer 50 torsade de pointes 50 aortic rupture 50 X SCID 50 prion gene 50 Tetralogy 50 ovarian dysfunction 50 osteomalacia 50 umbilical vein 50 myocarditis inflammation 50 dysfunctioning 50 nephrogenic 50 Benign Paroxysmal Positional Vertigo 50 SMN2 gene 50 lysosomal enzyme 50 meningitis encephalitis pulmonary edema 50 Colorectal cancers 50 Osteogenesis Imperfecta 50 coma convulsions 50 variable immunodeficiency 50 PPCM 50 lichen planus 50 paraganglioma 50 lateral ventricles 50 Mitochondrial 50 fibrillin 1 50 Igf2 50 arrhythmogenic right 50 missense mutations 50 histologic findings 50 FGF signaling 50 hypertrichosis 50 amniotic fluid embolism 50 patent ductus arteriosus 50 tracheal stenosis 50 fronto temporal dementia 50 patellar dislocation 50 Aortic valve 50 dermoid 50 granulomas 50 sirenomelia 50 defective cilia 50 inherited retinal 50 ectodermal 50 amyloid beta plaques 50 fertilized egg splits 50 epigenetic changes 50 angioma 50 pulmonary valves 50 Sporadic CJD 50 myometrium 50 hemispherectomy 50 bilaterians 50 Thyroid hormone 50 primordial germ cells 50 progressive neurodegenerative 50 Febrile seizures 50 blood clotting disorder 50 recurrent laryngeal nerve 50 Wegener granulomatosis 50 convulsions coma 50 autophagic 50 anatomic structures 50 malignant hyperthermia 50 mucus glands 50 intercranial 50 familial hypercholesterolemia 50 PDGFR 50 Krabbe Leukodystrophy 50 lymphocytic 50 angiosarcoma 50 myocyte 50 deformational plagiocephaly 50 hemophagocytic lymphohistiocytosis 50 disorder thalassemia 50 Niemann Pick disease 50 Genetic predisposition 50 biopsy specimen 50 ataxia telangiectasia 50 depigmentation 50 juvenile myelomonocytic leukemia 50 IgA deficiency 50 neural cells 50 Marfan 50 thunderclap headache 50 polycystic ovarian disease 50 spontaneous mutation 50 subdural bleeding 50 incompetent cervix 50 Cleft palate 50 retinal nerve 50 nonischemic 50 Peritoneal mesothelioma 50 histologic 50 pleomorphic 50 facial malformations 50 ataxia 50 anatomical abnormalities 50 SNHL 50 hyperplasia 50 ARVD 50 gastrointestinal stromal tumor 50 vasculopathy 50 prion disease 50 Dental fluorosis 50 MSUD 50 cystic fibrosis muscular dystrophy 50 hereditary degenerative 50 Leber Hereditary Optic Neuropathy 50 inheritable genetic 50 suppurative 50 motor neuron 50 osteogenesis 50 phenotype 50 neuropathological 50 subdural hemorrhages 50 fatty degeneration 50 tuberous sclerosis 50 medulloblastomas 50 APOL1 50 atrial septal defects 50 skeletal deformities 50 pheochromocytomas tumors 50 Chronic pancreatitis 50 varicoceles 50 hypoxic ischemic encephalopathy HIE 50 renal fibrosis 50 verbal apraxia 50 metachromatic leukodystrophy 50 genetic neuromuscular disorder 50 schwannoma 50 retinal hemorrhage 50 trabeculae 50 progressive neurodegenerative disorders 50 colic diarrhea 50 endocrine abnormalities 50 Joubert Syndrome 50 idiopathic scoliosis 50 neural crest cells 50 glycogen storage