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(Click for frequent words.) 71 genetic defect 71 genetic mutation 69 chromosome abnormality 69 chromosomal disorder 67 mutated gene 67 chromosomal abnormality 66 chromosomal defect 66 holoprosencephaly 66 gene mutation 66 genetic disorder 65 genetic mutations 65 defective gene 64 mutation 64 chromosomal abnormalities 64 genetic abnormalities 64 mutant gene 64 autosomal recessive 64 inherited mutations 64 chromosomal anomaly 63 Fanconi anemia 63 hereditary disorder 63 neural tube defect 63 recessive trait 63 Joubert syndrome 63 genetically inherited 62 DiGeorge syndrome 62 autosomal dominant 62 G#S mutation 62 IgA deficiency 62 ectodermal dysplasia 62 mutations 62 genetic defects 62 familial ALS 62 mosaicism 62 abnormalities 62 polydactylism 62 Li Fraumeni syndrome 61 congenital disorders 61 congenital deafness 61 congenital anomaly 61 Dravet syndrome 61 HGPS 61 dyskeratosis congenita 61 autosomal dominant disorder 61 malformation 61 hydrops 61 chromosomal disorders 61 gene mutations 61 Apert syndrome 61 genetic alteration 61 Lafora disease 61 myotonic dystrophy 61 sporadic ALS 61 recessive genetic 61 Cockayne syndrome 61 Hashimoto thyroiditis 61 genetic syndromes 61 MYH9 gene 61 CHD7 61 recessive gene 60 beta thalassemia 60 brain malformation 60 chromosomal alterations 60 BRCA2 gene 60 huntingtin gene 60 congenital disorder 60 DiGeorge Syndrome 60 NF1 60 Klinefelter syndrome 60 familial adenomatous polyposis 60 mutant genes 60 neurodegenerative disorder 60 BRCA1 gene 60 chromosomal defects 60 de novo mutations 60 mutated genes 60 Niemann Pick disease 60 spontaneous mutations 59 hypertrophic cardiomyopathy HCM 59 Tay Sachs disease 59 Prader Willi syndrome 59 rare chromosomal disorder 59 VHL gene 59 osteogenesis imperfecta 59 MCAD deficiency 59 ARVD 59 CFTR gene 59 dominantly inherited 59 TP# mutation 59 Angelman syndrome 59 narcolepsy cataplexy 59 Diamond Blackfan anemia 59 neuroblastomas 59 aneuploidies 59 LQTS 59 mtDNA mutations 59 chromosome abnormalities 59 chronic granulomatous disease 59 susceptibility gene 59 ADPKD 59 Hirschsprung disease 59 basal cell nevus syndrome 59 nonsense mutations 59 RPE# 59 mitochondrial diseases 58 HbF 58 trisomy 58 Beckwith Wiedemann syndrome 58 histiocytosis 58 Wilms tumor 58 Brugada syndrome 58 fatal neuromuscular disorder 58 anencephaly 58 autosomal recessive disease 58 Meckel Gruber 58 pyloric stenosis 58 Noonan Syndrome 58 hereditary deafness 58 MECP2 gene 58 Male pattern baldness 58 fatal neurodegenerative 58 genetic trait 58 Hypophosphatasia 58 achromatopsia 58 APOE gene 58 mitochondrial disease 58 ataxia telangiectasia 58 neurofibromas 58 developmental abnormalities 58 gene variant 58 MCADD 58 causative mutation 58 BARD1 58 fatal neurodegenerative disorder 58 neuropsychiatric disorder 58 genes predisposing 58 enzyme deficiency 58 herpesviruses 58 TACI mutations 58 FMR1 gene 58 chromosomal anomalies 58 galactosemia 58 DiGeorge syndrome rare 58 monozygotic twins 58 recessive genes 58 protein encoded 58 MYCN amplification 57 clotting disorder 57 Anencephaly 57 germline mutations 57 Spinal muscular atrophy 57 metabolic disorder 57 nonsense mutation 57 GBM tumors 57 immunodeficiency 57 untreated celiac disease 57 congenital hypothyroidism 57 Spina bifida 57 transfusion syndrome 57 inherited predisposition 57 HMGA2 57 IKZF1 57 teratoma 57 ovarian tumors 57 LRRK2 gene 57 medium chain acyl 57 mitochondrial dysfunction 57 chromosome #q#.# [001] 57 Beta thalassemia 57 neurodevelopmental disorder 57 missense mutation 57 epigenetic changes 57 mitochondrial mutations 57 degenerative disorder 57 Congenital Adrenal Hyperplasia 57 polydactyly 57 NF2 57 medulloblastoma tumors 57 genetic variant 57 autosomal dominant inheritance 57 long QT syndrome 57 spontaneous mutation 57 Hurler Syndrome 57 PTPN# 57 osteopetrosis 57 persistent pulmonary hypertension 57 JAK mutations 57 abnormal chromosome 57 Retinoblastoma 56 inherited neurological disorder 56 PTEN mutations 56 genetic variations 56 gene variants 56 dysgenesis 56 immunodeficiency disorder 56 genetic disorders 56 Crouzon syndrome 56 chromosome deletion 56 WAGR syndrome 56 Severe Combined Immunodeficiency 56 degenerative neurological disorder 56 APOE e4 56 AAT deficiency 56 genetic predisposition 56 congenital anomalies 56 Epstein Barr virus EBV 56 congenital abnormality 56 Kufs disease 56 spinocerebellar ataxia 56 BRCA1 mutations 56 familial hypercholesterolemia 56 LRRK2 mutations 56 microdeletion 56 brain lesions 56 bronchopulmonary dysplasia 56 incurable genetic 56 genes BRCA1 56 MEF2A 56 birth defect 56 multisystem disease 56 MC1R 56 FTLD 56 progressive neurodegenerative disorder 56 Sanfilippo Syndrome 56 monogenic 56 toxoplasmosis 56 myostatin gene 56 familial adenomatous polyposis FAP 56 heritable 56 maternally inherited 56 autosomal recessive disorder 56 MSH2 56 spastic diplegia 56 medulloblastomas 56 aneuploidy 56 neuroblastoma tumor 56 Fanconi Anemia 56 prenatally diagnosed 56 Hutchinson Gilford progeria 56 achondroplasia 56 thyroid hormone deficiency 56 apolipoprotein E gene 56 Muscular dystrophy 56 congenital abnormalities 56 HLA B# 56 synovial sarcoma 56 PANDAS 56 HNPCC 56 hemochromatosis 56 recessive inheritance 56 Fragile X Syndrome 56 microdeletions 56 gene MECP2 56 ZNF# 56 diaphragmatic hernia 56 pathogenic mutations 56 homozygosity 56 causative genes 56 biliary atresia 56 inherited genetic mutation 56 Rh positive 56 Polycystic kidney disease 56 Down syndrome chromosomal disorder 56 motor neuron degeneration 56 pseudotumor cerebri 56 polycystic kidneys 55 abnormal chromosomes 55 filaggrin 55 paraganglioma 55 proband 55 spastic paraplegia 55 ambiguous genitalia 55 malformations 55 somatic mutations 55 SORL1 55 herpes infection 55 leptin resistance 55 Fragile X gene 55 Osteosarcoma 55 microcephalin 55 epigenetic modification 55 Gestational diabetes 55 Proteus syndrome 55 abnormal hemoglobin 55 causative gene 55 primary ciliary dyskinesia 55 APOE4 55 diagnosed prenatally 55 incurable neurodegenerative disease 55 mutated BRCA1 55 TCF#L# gene 55 medulloblastoma 55 LIS1 55 Alagille syndrome 55 X chromosome 55 Usher syndrome 55 Sanfilippo syndrome 55 p# mutation 55 hereditary disorders 55 spinal muscular atrophy SMA 55 MC4R gene 55 genetic alterations 55 herpes viruses 55 fronto temporal dementia 55 myelomeningocele 55 KCNQ1 55 roseola 55 molar pregnancy 55 congenital adrenal hyperplasia CAH 55 mitochondrial disorders 55 precocious puberty 55 hereditary spastic paraplegia 55 heterotaxy 55 CNVs 55 monozygotic twin 55 lissencephaly 55 neuroblastoma tumors 55 recurrent miscarriages 55 vasa previa 55 Krabbe Leukodystrophy 55 Peutz Jeghers syndrome 55 mutated protein 55 Marfan syndrome 55 Bardet Biedl syndrome 55 severe congenital neutropenia 55 BRAF gene 55 PTEN gene 55 LRAT 55 Cystic fibrosis 55 Coeliac disease 55 frontotemporal dementia 55 cardiac channelopathies 55 fatal myelination disorder 55 sirenomelia 55 normal karyotype 55 idiopathic 55 gene APOE4 55 gene locus 55 septo optic dysplasia 55 Usher Syndrome 55 diffuse pontine glioma 55 auditory neuropathy 55 inherited retinal degeneration 55 Leber congenital amaurosis LCA 55 myelodysplasia 55 tumor suppressor gene 55 blastoma 55 idiopathic epilepsy 55 SHANK3 55 degenerative neurological disease 55 genetic variants associated 55 mammary cancers 55 Chiari malformation 55 choriocarcinoma 55 GATA4 55 CNTNAP2 gene 54 neurofibroma 54 Myopathy 54 Beckwith Wiedemann Syndrome 54 abnormality 54 thrombophilia 54 systemic amyloidosis 54 autoinflammatory diseases 54 situs inversus 54 Fragile X syndrome 54 polycystic ovarian syndrome PCOS 54 alpha thalassemia 54 CMV infection 54 angiosarcoma 54 Trisomy 54 neurological disorder 54 NOTCH1 54 lysosomal storage disease 54 microchimerism 54 G6PD deficiency 54 genetic variation 54 polycystic ovary syndrome 54 JAK2 mutation 54 hereditary predisposition 54 sCJD 54 FSGS 54 undiagnosed celiac disease 54 homozygous FH 54 BRCA mutations 54 Long QT syndrome 54 tumor suppressor protein 54 spontaneous remission 54 NF1 gene 54 highly heritable 54 skeletal malformations 54 ectopic 54 Henoch purpura 54 Hurler syndrome 54 #q#.# deletion syndrome 54 CAG repeats 54 Leber congenital amaurosis 54 chorioamnionitis 54 Cryptococcus neoformans 54 heterozygous 54 blastomeres 54 nonmelanoma skin cancers 54 BRCA mutation 54 prosopagnosia 54 uterus didelphys 54 epidermolysis bullosa EB 54 paraneoplastic 54 Angelman Syndrome 54 underlying pathophysiology 54 autistic traits 54 #q#.# [001] 54 primitive neuroectodermal tumors 54 mitochondrial defects 54 ependymoma 54 cerebri 54 hamartoma 54 xeroderma pigmentosum 54 cardiac progenitor cells 54 recessive mutations 54 Loeys Dietz syndrome 54 variable immunodeficiency 54 mammary tumors 54 pneumococci 54 skeletal dysplasia 54 IUGR 54 APOL1 54 sickle cell disease 54 nonhereditary 54 Duchenne muscular dystrophy DMD 54 C. neoformans 54 congenital malformation 54 TEL AML1 54 CNTNAP2 54 penetrance 54 Brugada Syndrome 54 FXTAS 54 Wiskott Aldrich syndrome 54 Vitamin B# deficiency 54 eosinophilic esophagitis 54 Menkes disease 54 Alport syndrome 54 Cowden syndrome 54 spinal muscle atrophy 54 systemic scleroderma 54 hyperemesis gravidarum 54 imprinted genes 54 SCN5A 54 congenital malformations 54 leukodystrophy 54 hyperemesis 54 hamartomas 54 mutated BRCA 54 gastroschisis 54 breast cancer genes BRCA1 54 breast cancer metastasis 54 chromosomal instability 54 epigenetically 54 SMN1 54 CDH1 54 Rh incompatibility 54 hyperinsulinism 54 epigenetic alterations 54 genetic variants 54 Kabuki syndrome 54 idiopathic PAH 54 neuro developmental disorder 54 human metapneumovirus 54 leptin deficiency 54 neonatal encephalopathy 54 progerin 54 BCL#A 54 CHDs 54 alveolar rhabdomyosarcoma 54 hypoplasia 54 neuroblastoma 54 autosomal recessive genetic 54 Myotonic dystrophy 54 motor neuron diseases 54 Von Willebrand disease 54 ataxias 54 UGT#B# 54 hereditary hemochromatosis 54 aY chromosome 54 epigenetic modifications 54 SRY gene 54 karyotype 54 gene 54 Medulloblastoma 53 dizygotic twins 53 herpes simplex encephalitis 53 familial hypercholesterolaemia 53 disorder thalassemia 53 Aicardi syndrome 53 Six3 53 otosclerosis 53 Genetic variants 53 PALB2 53 Cushing syndrome 53 imperfecta 53 FMRP protein 53 chromosomal rearrangement 53 blood clotting disorder 53 noncancerous tumors 53 Leber hereditary optic neuropathy 53 chromosomal imbalance 53 benign polyps 53 Aortic dissection 53 CHARGE syndrome 53 mitochondrial DNA mutations 53 NAFLD 53 phenylketonuria 53 disease NAFLD 53 homozygous 53 retrovirus 53 streptococcus infection 53 pituitary tumors 53 deleterious mutation 53 mutant protein 53 endostatin 53 Joubert syndromes 53 Pulmonary hypertension 53 infantile hemangiomas 53 bowel cancers 53 β thalassemia 53 Genetic mutations 53 JMML 53 phenotype 53 beta1 integrin 53 genes 53 susceptibility genes 53 leukoencephalopathy 53 polymorphic ventricular tachycardia 53 SOD2 gene 53 intractable epilepsy 53 Rh factor 53 cardiomyopathy 53 hereditary blindness 53 NKX2 53 TRIM5 53 prion disease 53 Ets2 53 PTLD 53 MELAS 53 shortened telomeres 53 Krabbe Disease 53 multisystem disorder 53 interferon pathway 53 APOE ε4 53 Reye Syndrome 53 de ath 53 mutated K ras 53 aniridia 53 thyroiditis 53 embryonal rhabdomyosarcoma 53 HFE gene 53 Rett syndrome 53 HLA genes 53 phthalate syndrome 53 endocrine disorder 53 nerve degeneration 53 carcinoid tumor 53 Sporadic CJD 53 lymphangioleiomyomatosis LAM 53 unprovoked seizures 53 chromosomal translocations 53 Hutchinson Gilford Progeria Syndrome 53 haemochromatosis 53 KCNE2 53 K ras mutations 53 epididymitis 53 dilated cardiomyopathy 53 ApoE4 gene 53 apoE4 53 hormonal disorder 53 V Leiden 53 RhD negative 53 exfoliation glaucoma 53 maternally transmitted 53 Coronaviruses 53 amniotic fluid embolism 53 retinal dysfunction 53 Cystic fibrosis CF 53 neurodevelopment disorder 53 metabolic abnormality 53 microcephaly 53 C1q 53 missense mutations 53 CYP#D# gene 53 PHLPP 53 heterozygotes 53 Malignant mesothelioma 53 plasma kallikrein 53 FMR1 53 arrhythmogenic right 53 hyperparathyroidism 53 Polycystic ovary syndrome 53 TGFBR1 * 6A 53 tumor suppressor genes 53 Klinefelter Syndrome 53 mitochondrial myopathy 53 polycystic ovaries 53 Retinopathy 53 proto oncogene 53 lymphoblastic leukemia 53 hepatoblastoma 53 dysmorphic features 53 lysosomal storage diseases 53 gestational diabetes mellitus 53 rhabdomyosarcoma 53 clefting 53 germline mutation 53 GISTs 53 microvascular angina 53 MTHFR 53 lichen planus 53 Wiskott Aldrich Syndrome 53 p# mutations 53 autistic regression 53 MLL gene 53 neurodevelopmental disorders 53 IDH1 53 Genetic mutation 53 muscular dystrophies 53 HOX genes 53 dopamine transporter gene 52 Wegener granulomatosis 52 Neuregulin 1 52 IGF1 52 polyhydramnios 52 cystic lesions 52 chromosomal translocation 52 neurofibromatosis 52 pancreatic endocrine 52 enterovirus infection 52 Crigler Najjar syndrome 52 GBA mutations 52 MGUS 52 parthenogenetic 52 Progeria 52 recessive mutation 52 PNET 52 primary pulmonary hypertension 52 MLH1 52 IDH mutations 52 familial pancreatic cancer 52 enterocolitis 52 endometrial cancers 52 retinoblastoma Rb 52 sporadic Creutzfeldt Jakob 52 chromosomal aberrations 52 herpes zoster virus 52 Crouzon Syndrome 52 neuron degeneration 52 micro RNAs 52 cardiac hypertrophy 52 MeCP2 gene 52 molecular abnormalities 52 KLF# 52 hemophagocytic lymphohistiocytosis 52 lymphoblastic lymphoma 52 Fas ligand 52 EoE 52 nephrosis 52 craniosynostosis 52 neurobiological disorder 52 immunodeficiencies 52 ectoderm 52 Pompe Disease 52 testicular tumors 52 ApoE gene 52 #q# deletion 52 Tay Sachs 52 Toxoplasmosis 52 leiomyomas 52 intestinal polyps 52 chromosome 52 Aortic stenosis 52 DLX5 52 Pre eclampsia 52 spongiform encephalopathies 52 Colorectal cancers 52 homocystinuria 52 ApoE4 52 myopathies 52 Endometrial cancer 52 placenta praevia 52 mammalian embryos 52 fibrous dysplasia 52 lactase deficiency 52 hyperplastic 52 neurological complications 52 congenital deformity 52 telomere DNA 52 polycystic ovarian syndrome 52 microfilariae 52 Myocarditis 52 EBV infection 52 pilocytic astrocytomas 52 abnormal prions 52 SMN protein 52 thoracic aortic disease 52 hemangioma 52 polycystic ovary syndrome PCOS 52 fibrodysplasia ossificans progressiva 52 Wwox 52 fetal malformations 52 Retinitis pigmentosa 52 congenital birth defects 52 CMV infections 52 Hip dysplasia 52 atresia 52 MECP2 52 myositis 52 tuberous sclerosis 52 combined immunodeficiency SCID 52 tricuspid atresia 52 progressive degeneration 52 orchitis 52 facioscapulohumeral muscular dystrophy 52 filaggrin gene 52 C. pneumoniae 52 malignant transformation 52 cystic kidney 52 Krabbe leukodystrophy 52 muscle degeneration 52 MAOA gene 52 cystic fibrosis muscular dystrophy 52 Cancerous cells 52 breast carcinomas 52 Osteogenesis Imperfecta 52 pre cancerous lesion 52 bicuspid valve 52 IDH2 52 BRCA genes 52 invasive carcinoma 52 Neurofibromatosis type 52 adenoma 52 VUR 52 Epstein Barr 52 thyroid deficiency 52 fibromatosis 52 myeloproliferative 52 esophageal atresia 52 recessively inherited 52 autosomal 52 Hyperthyroidism 52 syringomyelia 52 genetic polymorphisms 52 congenital blindness 52 5q deletion 52 frameshift mutation 52 GRK5 52 cerebellar hypoplasia 52 dystrophy 52 Joubert Syndrome 52 incidentalomas 52 dermoid cyst 52 Mental retardation 52 asymptomatically 52 GPC5 52 autoimmune thyroiditis 52 SLC#A# [002] 52 Lesch Nyhan syndrome 52 Maroteaux Lamy syndrome 52 inherited neurodegenerative disorder 52 Dilated cardiomyopathy 52 precancerous condition 52 severe aplastic anemia 52 umbilical hernias 52 hypertrophic obstructive cardiomyopathy 52 cryptogenic 52 subependymal giant cell 52 adenocarcinomas 52 GSTT1 52 lipomas 52 hormonal abnormalities 52 hereditary breast cancer 52 Hereditary angioedema HAE 52 immunocompetent 52 alpha synuclein gene 52 phenotypic expression 52 CALHM1 52 BRCA2 gene mutation 52 Chiari Malformation 52 pre eclampsia 52 BRCA gene 52 chromosome rearrangements 52 congenital glaucoma 52 #p#.# [001] 52 HLA DRB1 52 supratentorial 52 insulin resistance syndrome 52 Goldenhar syndrome 52 childhood leukemias 52 chromosomal deletions 52 Moebius Syndrome 52 BRCA gene mutation 52 Newborn screening 52 acute myelogenous leukemia AML 52 osteogenesis imperfecta OI 52 infectious mononucleosis 52 hypermethylation 52 DICER1 52 endogenous retroviruses 52 CFH gene 52 degenerative neuromuscular disease 52 abnormal proteins 52 Porphyria 52 tumor recurrence 52 gastric carcinomas 52 Marfan 52 SOD1 gene 52 Mycoplasma pneumoniae 52 familial dysautonomia 52 congenital defects 51 anatomical abnormalities 51 poorer prognosis 51 atherosclerotic lesions 51 Meckel Gruber syndrome 51 neuro degenerative disease 51 hypogonadotropic hypogonadism 51 diffuse intrinsic pontine glioma 51 Hurthle cell 51 genetically 51 transplanted bone marrow 51 Alport Syndrome 51 post transplant lymphoproliferative 51 ichthyosis 51 acute lymphoid leukemia 51 habitual snoring 51 granulosa cell 51 TTTS 51 RDEB 51 Down syndrome 51 ASDs 51 Canavan Disease 51 congenital 51 BRCA2 51 genetic 51 C#Y 51 retinal dystrophy 51 beta globin gene 51 Hirschsprung Disease 51 infection progressive multifocal 51 RPE# gene 51 neurofibromatosis type 51 von Hippel Lindau 51 Bcr Abl 51 neural crest 51 multidrug resistance 51 Sox9 51 mutant alleles 51 Guillain Barré Syndrome 51 aneuploid 51 parathyroid gland 51 herpes virus 51 LKB1 51 BRIP1 51 discoid lupus 51 abnormal growths 51 systemic mastocytosis 51 generalized epilepsy 51 Cholangiocarcinoma 51 1 diabetes T1D 51 RSV infections 51 Hemochromatosis 51 karyotypes 51 preeclamptic 51 BRAC2 51 placental malaria 51 thyroid dysfunction 51 metabolic abnormalities 51 Pervasive Developmental Disorder 51 congenital muscular dystrophy 51 neural crest stem cells 51 IRAK1 51 sickle hemoglobin 51 genetically predetermined 51 genetically identical 51 Wilm tumor 51 Foxp3 51 Fatty liver 51 idiopathic pulmonary arterial hypertension 51 anemias 51 static encephalopathy 51 SMN2 gene 51 mice lacking 51 autoantibodies 51 hereditary nonpolyposis colorectal cancer 51 HELLP 51 primordial germ cells 51 IL#R 51 homozygous familial hypercholesterolemia 51 eosinophilic 51 Reye syndrome 51 MEN 2B 51 congenital adrenal hyperplasia 51 Sandhoff disease 51 G6PD 51 mutant allele 51 outgrow peanut allergy 51 sporadic CJD 51 juvenile idiopathic arthritis JIA 51 BRCA1 mutation 51 parainfluenza virus 51 cryptorchidism 51 VCFS 51 Treacher Collins syndrome 51 KIBRA 51 Apert Syndrome 51 progranulin gene 51 intrauterine infection 51 LRP5 51 mitochondrial disorder 51 MIF protein 51 #q# [001] 51 COMT gene 51 profound deafness 51 gastrointestinal stromal tumor 51 phenotypic differences 51 lysosomal diseases 51 epilepsies 51 acute myocarditis 51 liver scarring 51 congenital cataract 51 NF κB activation 51 autism neurological disorder 51 Tay Sachs Disease 51 GIST tumors 51 PDGFRA 51 gene rearrangements 51 acute lymphoblastic 51 transcriptional repression 51 benign growths 51 fungus Fusarium 51 periodontal infection 51 Aplastic anemia 51 hemolytic anemia 51 Asberger syndrome 51 Intussusception 51 Prion proteins 51 WT1 51 Dysplasia 51 cardioembolic stroke 51 Alzheimers disease 51 Obstructive sleep apnea 51 beta globin 51 p# gene 51 sFlt1 51 MIF gene 51 familial hypercholesterolaemia FH 51 preterm deliveries 51 Li Fraumeni 51 cortical dysplasia 51 toxocariasis 51 trophoblasts 51 Morquio syndrome 51 UGT#A# * 51 imatinib resistance 51 protein p# 51 ventricular cardiomyopathy 51 myopathy 51 singleton pregnancy 51 hypermethylated 51 globin 51 fertilized egg splits 51 gene variation 51 elevated CRP 51 juvenile myelomonocytic leukemia 51 mammary cells 51 distinct subtypes 51 immunodeficient 51 biochemical signaling pathway 51 TOMM# 51 unexplained mental retardation 51 Sjögren syndrome 51 parasite Plasmodium falciparum 51 HIBM 51 pancreatic tissue 51 pituitary adenoma 51 SLC#A# gene [001] 51 dysplasia 51 biliary atresia rare 51 inherited genetic mutations 51 Rubinstein Taybi syndrome 51 receptor molecule 51 stress cardiomyopathy 51 Mitochondrial diseases 51 ectopic pregnancies 51 germline cells 51 Prox1 51 gene p# 51 Becker muscular dystrophy 51 causal variants 51 pRb 51 Dwarfism 51 mesotheliomas 51 WDR# 51 onset Alzheimer disease 51 hydrocephaly