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/books/n/gene/mdel1q21_1/
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http://www.ncbi.nlm.nih.gov/books/NBK1116/
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gene
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Glossary
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/books/n/gene/glossary/
Resource Materials
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/books/n/gene/resource_mats/
here
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/books/n/gene/archived_chapters/
1q21.1 Recurrent Microdeletion
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/books/n/gene/mdel1q21_1/
3q29 Recurrent Deletion
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/books/n/gene/mdel3q29/
7q11.23 Duplication Syndrome
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/books/n/gene/dup7q11_23/
15q13.3 Microdeletion
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/books/n/gene/mdel15q13_3/
16p11.2 Recurrent Microdeletion
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/books/n/gene/del16p11_2/
16p12.2 Recurrent Deletion
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/books/n/gene/mdel16p12_2/
17q12 Recurrent Duplication
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/books/n/gene/dup17q12/
17q12 Recurrent Deletion Syndrome
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/books/n/gene/mdel17q12/
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
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/books/n/gene/cah/
22q11.2 Deletion Syndrome
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/books/n/gene/gr_22q11deletion/
ACTG2 Visceral Myopathy
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/books/n/gene/actg2-dis/
ADAMTSL4-Related Eye Disorders
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/books/n/gene/adamtsl4-eyes/
ADCY5 Dyskinesia
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/books/n/gene/adcy5-dysk/
ADNP-Related Disorder
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/books/n/gene/adnp-dis/
AIP Familial Isolated Pituitary Adenomas
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/books/n/gene/ipa/
ALK-Related Neuroblastic Tumor Susceptibility
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/books/n/gene/alk-nbs/
ALS2-Related Disorder
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/books/n/gene/iahsp/
ANKRD26-Related Thrombocytopenia
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/books/n/gene/ankrd26/
ANO5 Muscle Disease
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/books/n/gene/ano5-md/
AP-4-Associated Hereditary Spastic Paraplegia
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/books/n/gene/ap4-def/
APC-Associated Polyposis Conditions
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/books/n/gene/fap/
APOB-Related Familial Hypobetalipoproteinemia
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/books/n/gene/apob-hbl/
ARID1B-Related Disorder
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/books/n/gene/arid1b-dis/
ARSACS
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/books/n/gene/arsacs/
ASAH1-Related Disorders
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/books/n/gene/asah1/
ASPM Primary Microcephaly
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/books/n/gene/aspm-pm/
ASXL3-Related Disorder
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/books/n/gene/asxl3/
ATP1A3-Related Neurologic Disorders
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/books/n/gene/rapid-odp/
ATP6V0A2-Related Cutis Laxa
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/books/n/gene/cutis-laxa/
ATP7A-Related Copper Transport Disorders
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/books/n/gene/menkes/
ATP8B1 Deficiency
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/books/n/gene/pfic/
Abetalipoproteinemia
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/books/n/gene/ab-lipo-p/
Aceruloplasminemia
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/books/n/gene/acp/
Achondrogenesis Type 1B
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/books/n/gene/achon1b/
Achondroplasia
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/books/n/gene/achondroplasia/
Achromatopsia
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/books/n/gene/achm/
Acid Sphingomyelinase Deficiency
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/books/n/gene/npab/
Action Myoclonus – Renal Failure Syndrome
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/books/n/gene/amrf/
Acute Intermittent Porphyria
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/books/n/gene/aip/
Adams-Oliver Syndrome
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/books/n/gene/adams-oliver/
Adenine Phosphoribosyltransferase Deficiency
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/books/n/gene/aprt-def/
Adenosine Deaminase 2 Deficiency
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/books/n/gene/ada2-def/
Adenosine Deaminase Deficiency
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/books/n/gene/ada/
Adult Refsum Disease
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/books/n/gene/refsum/
Aicardi Syndrome
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/books/n/gene/aic/
Aicardi-Goutières Syndrome
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/books/n/gene/ags/
Alagille Syndrome
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/books/n/gene/alagille/
Alexander Disease
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/books/n/gene/alexander/
Alkaptonuria
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/books/n/gene/alkap/
Allan-Herndon-Dudley Syndrome
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/books/n/gene/thctd/
Alpha-1 Antitrypsin Deficiency
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/books/n/gene/alpha1-a/
Alpha-Mannosidosis
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/books/n/gene/a-mannosidosis/
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
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/books/n/gene/xlmr/
Alpha-Thalassemia
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/books/n/gene/a-thal/
Alport Syndrome
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/books/n/gene/alport/
Alström Syndrome
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/books/n/gene/alstrom/
Alzheimer Disease Overview
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/books/n/gene/alzheimer/
Amish Lethal Microcephaly
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/books/n/gene/amish-mcph/
Amyotrophic Lateral Sclerosis Overview
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/books/n/gene/als-overview/
Andersen-Tawil Syndrome
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/books/n/gene/acpp/
Androgen Insensitivity Syndrome
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/books/n/gene/androgen/
Angelman Syndrome
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/books/n/gene/angelman/
Apert Syndrome
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/books/n/gene/apert/
Arginase Deficiency
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/books/n/gene/arg1/
Argininosuccinate Lyase Deficiency
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/books/n/gene/args-aciduria/
Arrhythmogenic Right Ventricular Cardiomyopathy
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/books/n/gene/arvd/
Arterial Tortuosity Syndrome
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/books/n/gene/arterial-t/
Arts Syndrome
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/books/n/gene/arts/
Arylsulfatase A Deficiency
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/books/n/gene/mld/
Asparagine Synthetase Deficiency
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/books/n/gene/as-def/
Ataxia with Oculomotor Apraxia Type 1
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/books/n/gene/aoa/
Ataxia with Oculomotor Apraxia Type 2
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/books/n/gene/aoa2/
Ataxia with Vitamin E Deficiency
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/books/n/gene/aved/
Ataxia-Telangiectasia
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/books/n/gene/ataxia-telangiectas/
Atelosteogenesis Type 2
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/books/n/gene/ao2/
Au-Kline Syndrome
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/books/n/gene/au-kline/
Autoimmune Lymphoproliferative Syndrome
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/books/n/gene/alps/
Autosomal Dominant Epilepsy with Auditory Features
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/books/n/gene/peaf/
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
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/books/n/gene/adnfle/
Autosomal Dominant Robinow Syndrome
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/books/n/gene/rob-ad/
Autosomal Dominant TRPV4 Disorders
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/books/n/gene/cmt2c/
Autosomal Dominant Tubulointerstitial Kidney Disease – MUC1
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/books/n/gene/mckd1/
Autosomal Dominant Tubulointerstitial Kidney Disease – REN
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/books/n/gene/hyper-nfj2/
Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD
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/books/n/gene/mckd2/
Autosomal Recessive Congenital Ichthyosis
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/books/n/gene/li-ar/
Aymé-Gripp Syndrome
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/books/n/gene/ayme-gripp/
BAP1 Tumor Predisposition Syndrome
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/books/n/gene/bap1-tpds/
BCL11A-Related Intellectual Disability
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/books/n/gene/bcl11a-id/
BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
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/books/n/gene/brca1/
BSCL2-Related Neurologic Disorders/Seipinopathy
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/books/n/gene/spg17/
Baller-Gerold Syndrome
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/books/n/gene/bgs/
Baraitser-Winter Cerebrofrontofacial Syndrome
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/books/n/gene/baraitser-winter/
Bardet-Biedl Syndrome Overview
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/books/n/gene/bbs/
Barth Syndrome
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/books/n/gene/barth/
Beckwith-Wiedemann Syndrome
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/books/n/gene/bws/
Berardinelli-Seip Congenital Lipodystrophy
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/books/n/gene/bscl/
Bestrophinopathies
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/books/n/gene/bvd/
Beta-Propeller Protein-Associated Neurodegeneration
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/books/n/gene/bpan/
Beta-Thalassemia
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/books/n/gene/b-thal/
Bietti Crystalline Dystrophy
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/books/n/gene/bietti-cd/
Biotin-Thiamine-Responsive Basal Ganglia Disease
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/books/n/gene/bgd-biotin/
Biotinidase Deficiency
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/books/n/gene/biotin/
Birt-Hogg-Dubé Syndrome
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/books/n/gene/bhd/
Blepharophimosis, Ptosis, and Epicanthus Inversus
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/books/n/gene/bpes/
Bloom Syndrome
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/books/n/gene/bloom/
Bohring-Opitz Syndrome
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/books/n/gene/bohring-opitz/
Branchiooculofacial Syndrome
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/books/n/gene/bofs/
Branchiootorenal Spectrum Disorder
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/books/n/gene/bor/
Brugada Syndrome
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/books/n/gene/brugada/
Burn-McKeown Syndrome
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/books/n/gene/burn-mckeown/
C3 Glomerulopathy
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/books/n/gene/mpgn/
C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis
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/books/n/gene/als-ftd/
CACNA1C-Related Disorders
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/books/n/gene/timothy/
CADASIL
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/books/n/gene/cadasil/
CASK Disorders
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/books/n/gene/cask-dis/
CATSPER-Related Male Infertility
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/books/n/gene/catsper-mi/
CDC73-Related Disorders
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/books/n/gene/hrpt2/
CDK13-Related Disorder
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/books/n/gene/cdk13-dis/
CEBPA-Associated Familial Acute Myeloid Leukemia (AML)
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/books/n/gene/cebpa-aml/
CHCHD10-Related Disorders
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/books/n/gene/chchd10-dis/
CHD2-Related Neurodevelopmental Disorders
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/books/n/gene/chd2-dis/
CHD4 Neurodevelopmental Disorder
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/books/n/gene/chd4-ndd/
CHD7 Disorder
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/books/n/gene/charge/
CHMP2B Frontotemporal Dementia
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/books/n/gene/ftd-chmp2b/
CHST3-Related Skeletal Dysplasia
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/books/n/gene/cd-chst3/
CLCN2-Related Leukoencephalopathy
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/books/n/gene/cc2-leuk/
CLCN7-Related Osteopetrosis
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/books/n/gene/clcn7/
CLPB Deficiency
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/books/n/gene/clpb-def/
COL1A1/2 Osteogenesis Imperfecta
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/books/n/gene/oi/
COL4A1-Related Disorders
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/books/n/gene/col4a1-dis/
CSF1R-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
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/books/n/gene/hdls/
CYLD Cutaneous Syndrome
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/books/n/gene/cyld-cs/
Caffey Disease
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/books/n/gene/caffey/
Calpainopathy
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/books/n/gene/lgmd2a/
Campomelic Dysplasia
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/books/n/gene/campo-dysp/
Camurati-Engelmann Disease
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/books/n/gene/ced/
Canavan Disease
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/books/n/gene/canavan/
Cantú Syndrome
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/books/n/gene/cantu/
Capillary Malformation-Arteriovenous Malformation Syndrome
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/books/n/gene/rasa1-rel-dis/
Carbonic Anhydrase VA Deficiency
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/books/n/gene/ca5a-def/
Cardiofaciocutaneous Syndrome
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/books/n/gene/cfc/
Carney Complex
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/books/n/gene/carney/
Carnitine Palmitoyltransferase 1A Deficiency
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/books/n/gene/cpt1a/
Carnitine Palmitoyltransferase II Deficiency
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/books/n/gene/cpt2/
Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders
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/books/n/gene/chh/
Catecholaminergic Polymorphic Ventricular Tachycardia
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/books/n/gene/cvt/
Celiac Disease
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/books/n/gene/celiac/
Cerebral Cavernous Malformation, Familial
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/books/n/gene/ccm/
Cerebrotendinous Xanthomatosis
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/books/n/gene/ctx/
Char Syndrome
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/books/n/gene/char/
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview
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/books/n/gene/cmt/
Charcot-Marie-Tooth Neuropathy X Type 5
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/books/n/gene/cmtx5/
Chediak-Higashi Syndrome
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/books/n/gene/chediak-higashi/
Cherubism
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/books/n/gene/cherubism/
Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter
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/books/n/gene/cach/
Chondrodysplasia Punctata 1, X-Linked
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/books/n/gene/cdp1-xlr/
Chondrodysplasia Punctata 2, X-Linked
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/books/n/gene/x-dcdp/
Chorea-Acanthocytosis
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/books/n/gene/chac/
Choroideremia
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/books/n/gene/choroid/
Christianson Syndrome
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/books/n/gene/christianson/
Chronic Granulomatous Disease
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/books/n/gene/cgd/
Citrin Deficiency
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/books/n/gene/citrin/
Citrullinemia Type I
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/books/n/gene/ctlm/
Classic Ehlers-Danlos Syndrome
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/books/n/gene/eds/
Classic Galactosemia and Clinical Variant Galactosemia
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/books/n/gene/galactosemia/
Cleidocranial Dysplasia Spectrum Disorder
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/books/n/gene/ccd/
Cockayne Syndrome
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/books/n/gene/cockayne/
Coffin-Lowry Syndrome
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/books/n/gene/cls/
Coffin-Siris Syndrome
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/books/n/gene/coffin-siris/
Cohen Syndrome
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/books/n/gene/cohen/
Cold-Induced Sweating Syndrome Including Crisponi Syndrome
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/books/n/gene/ciss/
Collagen VI-Related Dystrophies
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/books/n/gene/bethlem/
Complete Plasminogen Activator Inhibitor 1 Deficiency
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/books/n/gene/pai-1-def/
Congenital Cataracts, Facial Dysmorphism, and Neuropathy
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/books/n/gene/ccfdn/
Congenital Central Hypoventilation Syndrome
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/books/n/gene/ondine/
Congenital Contractural Arachnodactyly
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/books/n/gene/cca/
Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia
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/books/n/gene/df-lamm/
Congenital Diaphragmatic Hernia Overview
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/books/n/gene/cdh-ov/
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
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/books/n/gene/cdg/
Congenital Dyserythropoietic Anemia Type I
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/books/n/gene/cda1/
Congenital Erythropoietic Porphyria
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/books/n/gene/cep/
Congenital Fibrosis of the Extraocular Muscles Overview
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/books/n/gene/cfeom/
Congenital Insensitivity to Pain Overview
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/books/n/gene/cip-overview/
Congenital Mirror Movements
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/books/n/gene/mirror/
Congenital Myasthenic Syndromes
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/books/n/gene/cms/
Congenital Stromal Corneal Dystrophy
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/books/n/gene/csc-dys/
Cornelia de Lange Syndrome
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/books/n/gene/cdls/
Costeff Syndrome
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/books/n/gene/mga3/
Costello Syndrome
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/books/n/gene/costello/
Cranioectodermal Dysplasia
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/books/n/gene/ce-dysp/
Craniometaphyseal Dysplasia, Autosomal Dominant
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/books/n/gene/cranio-md/
Creatine Deficiency Syndromes
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/books/n/gene/creatine/
Cystic Fibrosis and Congenital Absence of the Vas Deferens
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/books/n/gene/cf/
Cystinosis
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/books/n/gene/ctns/
Cytochrome P450 Oxidoreductase Deficiency
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/books/n/gene/abs/
DCTN1-Related Neurodegeneration
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/books/n/gene/perry/
DCX-Related Disorders
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/books/n/gene/dcx/
DDX3X-Related Neurodevelopmental Disorder
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/books/n/gene/ddx3x-ndd/
DEPDC5-Related Epilepsy
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/books/n/gene/depdc5-epilepsy/
DFNA2 Nonsyndromic Hearing Loss
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/books/n/gene/dfna2/
DFNX1 Nonsyndromic Hearing Loss and Deafness
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/books/n/gene/dfnx1/
DICER1 Tumor Predisposition
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/books/n/gene/pp-blastoma/
DNAJC6 Parkinson Disease
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/books/n/gene/dnajc6-pd/
DNMT1-Related Disorder
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/books/n/gene/dnmt1-ddsn/
DRPLA
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/books/n/gene/drpla/
DYRK1A Syndrome
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/books/n/gene/dyrk1a-id/
DYT-GNAL
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/books/n/gene/gnal-dystonia/
DYT1 Early-Onset Isolated Dystonia
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/books/n/gene/dystonia/
Danon Disease
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/books/n/gene/danon/
Deafness and Myopia Syndrome
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/books/n/gene/dfn-myop/
Deafness-Dystonia-Optic Neuronopathy Syndrome
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/books/n/gene/ddon/
Dent Disease
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/books/n/gene/dent/
Deoxyguanosine Kinase Deficiency
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/books/n/gene/dguok-mtddepl/
Diabetes Mellitus, 6q24-Related Transient Neonatal
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/books/n/gene/dmtn/
Diamond-Blackfan Anemia
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/books/n/gene/diamond-b/
Diastrophic Dysplasia
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/books/n/gene/diastrophic-d/
Dihydrolipoamide Dehydrogenase Deficiency
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/books/n/gene/dld-def/
Dilated Cardiomyopathy Overview
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/books/n/gene/dcm-ov/
Disorders of GNAS Inactivation
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/books/n/gene/gnas-dis/
Disorders of Intracellular Cobalamin Metabolism
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/books/n/gene/cbl/
Donnai-Barrow Syndrome
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/books/n/gene/donnai/
Dopamine Beta-Hydroxylase Deficiency
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/books/n/gene/dbh/
Duane Syndrome
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/books/n/gene/duane/
Duarte Variant Galactosemia
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/books/n/gene/duarte-gal/
Dysferlinopathy
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/books/n/gene/miyoshi/
Dyskeratosis Congenita
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/books/n/gene/dkc/
Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
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/books/n/gene/hmdpc/
Dystrophic Epidermolysis Bullosa
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/books/n/gene/ebd/
Dystrophinopathies
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/books/n/gene/dbmd/
EBF3 Neurodevelopmental Disorder
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/books/n/gene/ebf3-ndd/
EED-Related Overgrowth
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/books/n/gene/eed-og/
EFEMP2-Related Cutis Laxa
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/books/n/gene/efemp2-cutis-laxa/
ELANE-Related Neutropenia
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/books/n/gene/cyclic-n/
EPB42-Related Hereditary Spherocytosis
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/books/n/gene/epb42-spherocytosis/
ETV6 Thrombocytopenia and Predisposition to Leukemia
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/books/n/gene/etv6-tpl/
ESCO2 Spectrum Disorder
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/books/n/gene/rbs/
EXOSC3 Pontocerebellar Hypoplasia
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/books/n/gene/exosc3-pc-hypo-p/
EZH2-Related Overgrowth
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/books/n/gene/weaver/
Emanuel Syndrome
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/books/n/gene/emanuel/
Emery-Dreifuss Muscular Dystrophy
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/books/n/gene/edmd/
Enlarged Parietal Foramina
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/books/n/gene/msx2/
Epidermolysis Bullosa Simplex
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/books/n/gene/ebs/
Epidermolysis Bullosa with Pyloric Atresia
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/books/n/gene/eb-pa/
Epimerase Deficiency Galactosemia
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/books/n/gene/gale-def/
Episodic Ataxia Type 1
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/books/n/gene/ea1/
Erythropoietic Protoporphyria, Autosomal Recessive
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/books/n/gene/epp-ar/
Esophageal Atresia / Tracheoesophageal Fistula Overview
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/books/n/gene/tef-ov/
Ethylmalonic Encephalopathy
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/books/n/gene/ee/
FARS2 Deficiency
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/books/n/gene/fars2-def/
FBLN5-Related Cutis Laxa
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/books/n/gene/fbln5-cutis-laxa/
FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome
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/books/n/gene/fbxl4-mtddepl/
FGFR Craniosynostosis Syndromes Overview
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/books/n/gene/craniosynostosis/
FH Tumor Predisposition Syndrome
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/books/n/gene/hlrcc/
FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome
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/books/n/gene/fkbp14-keds/
FLNA Deficiency
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/books/n/gene/x-pvh/
FLNB Disorders
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/books/n/gene/flnb-dis/
FMR1 Disorders
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/books/n/gene/fragilex/
FOXP2-Related Speech and Language Disorders
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/books/n/gene/foxp2-sl-dis/
FREM1 Autosomal Recessive Disorders
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/books/n/gene/mota/
FRMD7-Related Infantile Nystagmus
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/books/n/gene/xl-nystag/
Fabry Disease
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/books/n/gene/fabry/
Facioscapulohumeral Muscular Dystrophy
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/books/n/gene/fsh/
Factor V Leiden Thrombophilia
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/books/n/gene/factor-v-leiden/
Familial Dysautonomia
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/books/n/gene/fd/
Familial Hemiplegic Migraine
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/books/n/gene/fhm/
Familial Hemophagocytic Lymphohistiocytosis
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/books/n/gene/hlh/
Familial Hypercholesterolemia
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/books/n/gene/hyperchol/
Familial Hyperinsulinism
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/books/n/gene/hi/
Familial Lipoprotein Lipase Deficiency
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/books/n/gene/lpl/
Familial Mediterranean Fever
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/books/n/gene/fmf/
Familial Paroxysmal Nonkinesigenic Dyskinesia
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/books/n/gene/pnknd/
Familial Porphyria Cutanea Tarda
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/books/n/gene/porphyria-ct/
Fanconi Anemia
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/books/n/gene/fa/
Fatty Acid Hydroxylase-Associated Neurodegeneration
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/books/n/gene/fahn/
Feingold Syndrome 1
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/books/n/gene/feingold/
Fibrous Dysplasia/McCune-Albright Syndrome
follow
/books/n/gene/mccune-albright/
Fibrodysplasia Ossificans Progressiva
follow
/books/n/gene/fop/
Floating-Harbor Syndrome
follow
/books/n/gene/fhs/
Focal Dermal Hypoplasia
follow
/books/n/gene/focal-dh/
Free Sialic Acid Storage Disorders
follow
/books/n/gene/issd/
Friedreich Ataxia
follow
/books/n/gene/friedreich/
Fructose-1,6-Bisphosphatase Deficiency
follow
/books/n/gene/fructose1-6-def/
Fryns Syndrome
follow
/books/n/gene/fryns/
Fukuyama Congenital Muscular Dystrophy
follow
/books/n/gene/fcmd/
Fumarate Hydratase Deficiency
follow
/books/n/gene/fum/
G6PC3 Deficiency
follow
/books/n/gene/g6pc3-def/
GAN-Related Neurodegeneration
follow
/books/n/gene/gan/
GARS1-Associated Axonal Neuropathy
follow
/books/n/gene/cmt2d/
GATA1-Related X-Linked Cytopenia
follow
/books/n/gene/gata1/
GBE1 Adult Polyglucosan Body Disease
follow
/books/n/gene/apbd/
GDAP1-Related Hereditary Motor and Sensory Neuropathy
follow
/books/n/gene/cmt-4a/
GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes
follow
/books/n/gene/cmtx/
GLB1-Related Disorders
follow
/books/n/gene/gm1-ganglio/
GLYT1 Encephalopathy
follow
/books/n/gene/glyt1-dis/
GNB1 Encephalopathy
follow
/books/n/gene/gnb1-e/
GNB5-Related Neurodevelopmental Disorder
follow
/books/n/gene/gnb5-ndd/
GNE Myopathy
follow
/books/n/gene/ibm/
GNPTAB-Related Disorders
follow
/books/n/gene/ml2/
GRIN1-Related Neurodevelopmental Disorder
follow
/books/n/gene/grin1-ndd/
GRIN2A-Related Speech Disorders and Epilepsy
follow
/books/n/gene/grin2a-dis/
GRIN2B-Related Neurodevelopmental Disorder
follow
/books/n/gene/grin2b/
GRN Frontotemporal Dementia
follow
/books/n/gene/ftd-grn/
GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
follow
/books/n/gene/drd/
Gabriele-de Vries Syndrome
follow
/books/n/gene/gabriele-devries/
Gaucher Disease
follow
/books/n/gene/gaucher/
Geleophysic Dysplasia
follow
/books/n/gene/geleophys-dysp/
Generalized Arterial Calcification of Infancy
follow
/books/n/gene/gaci/
Genetic Atypical Hemolytic-Uremic Syndrome
follow
/books/n/gene/husa/
Genetic Prion Disease
follow
/books/n/gene/prion/
Genetic Steroid-Resistant Nephrotic Syndrome Overview
follow
/books/n/gene/srns-ov/
Glucose Transporter Type 1 Deficiency Syndrome
follow
/books/n/gene/glut1/
Glutaric Acidemia Type 1
follow
/books/n/gene/glutaric-a1/
Glycogen Storage Disease Type I
follow
/books/n/gene/gsd1/
Glycogen Storage Disease Type III
follow
/books/n/gene/gsd3/
Glycogen Storage Disease Type IV
follow
/books/n/gene/gsd4/
Glycogen Storage Disease Type V
follow
/books/n/gene/gsd5/
Glycogen Storage Disease Type VI
follow
/books/n/gene/gsd6/
Greig Cephalopolysyndactyly Syndrome
follow
/books/n/gene/gcps/
HEXA Disorders
follow
/books/n/gene/tay-sachs/
HFE Hemochromatosis
follow
/books/n/gene/hemochromatosis/
HIST1H1E Syndrome
follow
/books/n/gene/h1-4/
HPRT1 Disorders
follow
/books/n/gene/lns/
HTRA1 Disorder
follow
/books/n/gene/carasil/
Hand-Foot-Genital Syndrome
follow
/books/n/gene/hfg/
Hartsfield Syndrome
follow
/books/n/gene/hartsfield/
Hemophilia A
follow
/books/n/gene/hemo-a/
Hemophilia B
follow
/books/n/gene/hemo-b/
Hepatic Veno-Occlusive Disease with Immunodeficiency
follow
/books/n/gene/vodi/
Hepatoerythropoietic Porphyria
follow
/books/n/gene/hep/
Hereditary Ataxia Overview
follow
/books/n/gene/ataxias/
Hereditary Coproporphyria
follow
/books/n/gene/hcp/
Hereditary Diffuse Gastric Cancer
follow
/books/n/gene/hgc/
Hereditary Distal Renal Tubular Acidosis
follow
/books/n/gene/hered-drta/
Hereditary Dystonia Overview
follow
/books/n/gene/dystonia-ov/
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
follow
/books/n/gene/hfpoik-tmp/
Hereditary Folate Malabsorption
follow
/books/n/gene/folate-mal/
Hereditary Fructose Intolerance
follow
/books/n/gene/hfi/
Hereditary Hearing Loss and Deafness Overview
follow
/books/n/gene/deafness-overview/
Hereditary Hemorrhagic Telangiectasia
follow
/books/n/gene/hht/
Hereditary Hyperekplexia Overview
follow
/books/n/gene/hyperek/
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum
follow
/books/n/gene/accpn/
Hereditary Multiple Osteochondromas
follow
/books/n/gene/ext/
Hereditary Myopathy with Early Respiratory Failure
follow
/books/n/gene/hmerf/
Hereditary Nephrogenic Diabetes Insipidus
follow
/books/n/gene/ndi/
Hereditary Neuropathy with Liability to Pressure Palsies
follow
/books/n/gene/hnpp/
Hereditary Paraganglioma-Pheochromocytoma Syndromes
follow
/books/n/gene/paragangliomas/
Hereditary Sensory and Autonomic Neuropathy Type II
follow
/books/n/gene/hsan2/
Hereditary Spastic Paraplegia Overview
follow
/books/n/gene/hsp/
Hereditary Transthyretin Amyloidosis
follow
/books/n/gene/tfap/
Heritable Pulmonary Arterial Hypertension Overview
follow
/books/n/gene/pph/
Heritable Thoracic Aortic Disease Overview
follow
/books/n/gene/taa/
Hermansky-Pudlak Syndrome
follow
/books/n/gene/hps/
Hidrotic Ectodermal Dysplasia 2
follow
/books/n/gene/ed2/
Holoprosencephaly Overview
follow
/books/n/gene/hpe-overview/
Holt-Oram Syndrome
follow
/books/n/gene/hos/
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
follow
/books/n/gene/homocystinuria/
Huntington Disease
follow
/books/n/gene/huntington/
Huntington Disease-Like 2
follow
/books/n/gene/hd-l2/
Huppke-Brendel Syndrome
follow
/books/n/gene/huppke-brendel/
Hutchinson-Gilford Progeria Syndrome
follow
/books/n/gene/hgps/
Hyaline Fibromatosis Syndrome
follow
/books/n/gene/sys-h/
Hyperkalemic Periodic Paralysis
follow
/books/n/gene/hyper-pp/
Hypermobile Ehlers-Danlos Syndrome
follow
/books/n/gene/eds3/
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
follow
/books/n/gene/hhhs/
Hyperphosphatemic Familial Tumoral Calcinosis
follow
/books/n/gene/hyper-ftc/
Hypertrophic Cardiomyopathy Overview
follow
/books/n/gene/hyper-card/
Hypochondroplasia
follow
/books/n/gene/hypochondroplasia/
Hypohidrotic Ectodermal Dysplasia
follow
/books/n/gene/x-hed/
Hypokalemic Periodic Paralysis
follow
/books/n/gene/hpp/
Hypomyelination and Congenital Cataract
follow
/books/n/gene/hypo-mcc/
Hypophosphatasia
follow
/books/n/gene/hops/
IMAGe Syndrome
follow
/books/n/gene/image/
INSR-Related Severe Syndromic Insulin Resistance
follow
/books/n/gene/insr-ir/
IPEX Syndrome
follow
/books/n/gene/ipex/
IRF6-Related Disorders
follow
/books/n/gene/vws/
ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome
follow
/books/n/gene/isca1-mmds/
ISCA2-Related Mitochondrial Disorder
follow
/books/n/gene/isca2-mt-dis/
Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia
follow
/books/n/gene/ibmpfd/
Incontinentia Pigmenti
follow
/books/n/gene/i-p/
Infantile-Onset Spinocerebellar Ataxia
follow
/books/n/gene/sca-io/
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
follow
/books/n/gene/kms/
Isolated Methylmalonic Acidemia
follow
/books/n/gene/mma/
Isolated Sulfite Oxidase Deficiency
follow
/books/n/gene/iso-def/
Jervell and Lange-Nielsen Syndrome
follow
/books/n/gene/jln/
Joubert Syndrome
follow
/books/n/gene/joubert/
Junctional Epidermolysis Bullosa
follow
/books/n/gene/ebj/
Juvenile Hemochromatosis
follow
/books/n/gene/jh/
Juvenile Polyposis Syndrome
follow
/books/n/gene/jps/
KAT6B Disorders
follow
/books/n/gene/kat6b-dis/
KBG Syndrome
follow
/books/n/gene/kbgs/
KCNK9 Imprinting Syndrome
follow
/books/n/gene/kcnk9-is/
KCNQ2-Related Disorders
follow
/books/n/gene/bfns/
KCNQ3-Related Disorders
follow
/books/n/gene/kcnq3-dis/
KCNT1-Related Epilepsy
follow
/books/n/gene/kcnt1-epilepsy/
KMT2B-Related Dystonia
follow
/books/n/gene/kmt2b-dystonia/
Kabuki Syndrome
follow
/books/n/gene/kabuki/
Kaufman Oculocerebrofacial Syndrome
follow
/books/n/gene/kos/
Kindler Syndrome
follow
/books/n/gene/kindler/
Kleefstra Syndrome
follow
/books/n/gene/kleefstra/
Koolen-de Vries Syndrome
follow
/books/n/gene/mdel17q21_31/
Krabbe Disease
follow
/books/n/gene/krabbe/
L1 Syndrome
follow
/books/n/gene/l1cam/
LAMA2 Muscular Dystrophy
follow
/books/n/gene/mdef-cmd/
LMNA-Related Dilated Cardiomyopathy
follow
/books/n/gene/dcm-lmna/
LMNB1-Related Autosomal Dominant Leukodystrophy
follow
/books/n/gene/lad-ad/
LRRK2 Parkinson Disease
follow
/books/n/gene/lrrk2/
LTBP4-Related Cutis Laxa
follow
/books/n/gene/ltbp4-cutis-laxa/
Laing Distal Myopathy
follow
/books/n/gene/mpd1/
Lateral Meningocele Syndrome
follow
/books/n/gene/lms/
Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview
follow
/books/n/gene/lca-ov/
Leber Hereditary Optic Neuropathy
follow
/books/n/gene/lhon/
Legius Syndrome
follow
/books/n/gene/legius/
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
follow
/books/n/gene/lbsl/
Li-Fraumeni Syndrome
follow
/books/n/gene/li-fraumeni/
Lipoid Proteinosis
follow
/books/n/gene/lipoid-p/
Loeys-Dietz Syndrome
follow
/books/n/gene/loeys-dietz/
Long QT Syndrome
follow
/books/n/gene/rws/
Lowe Syndrome
follow
/books/n/gene/lowe/
Lymphedema-Distichiasis Syndrome
follow
/books/n/gene/lds/
Lymphoproliferative Disease, X-Linked
follow
/books/n/gene/x-lpd/
Lynch Syndrome
follow
/books/n/gene/hnpcc/
Lysinuric Protein Intolerance
follow
/books/n/gene/lpi/
Lysosomal Acid Lipase Deficiency
follow
/books/n/gene/lal-def/
MBD5 Haploinsufficiency
follow
/books/n/gene/mbd5-dis/
MECP2 Disorders
follow
/books/n/gene/rett/
MECP2 Duplication Syndrome
follow
/books/n/gene/mecp2-dup/
MECR-Related Neurologic Disorder
follow
/books/n/gene/mecr-dis/
MED12-Related Disorders
follow
/books/n/gene/fg/
MELAS
follow
/books/n/gene/melas/
MERRF
follow
/books/n/gene/merrf/
MFN2 Hereditary Motor and Sensory Neuropathy
follow
/books/n/gene/cmt2a/
MIRAGE Syndrome
follow
/books/n/gene/mirage/
MN1 C-Terminal Truncation Syndrome
follow
/books/n/gene/mn1-ctt/
MPPH Syndrome
follow
/books/n/gene/mpph/
MPV17-Related Mitochondrial DNA Maintenance Defect
follow
/books/n/gene/mpv17-mtdep/
MUTYH Polyposis
follow
/books/n/gene/maps/
MYH9-Related Disease
follow
/books/n/gene/myh9/
Malignant Hyperthermia Susceptibility
follow
/books/n/gene/mhs/
Mandibulofacial Dysostosis with Microcephaly
follow
/books/n/gene/mf-dys-mic/
Maple Syrup Urine Disease
follow
/books/n/gene/msud/
Marfan Syndrome
follow
/books/n/gene/marfan/
Marinesco-Sjögren Syndrome
follow
/books/n/gene/mss/
Maternal 15q Duplication Syndrome
follow
/books/n/gene/dup15q/
Maturity-Onset Diabetes of the Young Overview
follow
/books/n/gene/mody-ov/
McKusick-Kaufman Syndrome
follow
/books/n/gene/mkks/
McLeod Neuroacanthocytosis Syndrome
follow
/books/n/gene/mcleod/
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
follow
/books/n/gene/mcad/
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview
follow
/books/n/gene/mmihs-ov/
Megalencephalic Leukoencephalopathy with Subcortical Cysts
follow
/books/n/gene/mlc/
Microcephaly-Capillary Malformation Syndrome
follow
/books/n/gene/miccap-ms/
Microphthalmia with Linear Skin Defects Syndrome
follow
/books/n/gene/microph-lsd/
Milroy Disease
follow
/books/n/gene/milroy/
Mitochondrial DNA Deletion Syndromes
follow
/books/n/gene/kss/
Mitochondrial DNA-Associated Leigh Syndrome and NARP
follow
/books/n/gene/narp/
Mitochondrial DNA Maintenance Defects Overview
follow
/books/n/gene/mtdna-md-ov/
Mitochondrial Membrane Protein-Associated Neurodegeneration
follow
/books/n/gene/mt-mpan/
Mitochondrial Neurogastrointestinal Encephalopathy Disease
follow
/books/n/gene/mngie/
Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency
follow
/books/n/gene/echs1-def/
Monosomy 7 Predisposition Syndromes Overview
follow
/books/n/gene/monosomy7-ov/
Mowat-Wilson Syndrome
follow
/books/n/gene/mws/
Mucolipidosis III Gamma
follow
/books/n/gene/ml3c/
Mucolipidosis IV
follow
/books/n/gene/ml4/
Mucopolysaccharidosis Type I
follow
/books/n/gene/mps1/
Mucopolysaccharidosis Type II
follow
/books/n/gene/hunter/
Mucopolysaccharidosis Type III
follow
/books/n/gene/mps3/
Mucopolysaccharidosis Type IVA
follow
/books/n/gene/mps4a/
Muenke Syndrome
follow
/books/n/gene/muenke/
Multicentric Osteolysis Nodulosis and Arthropathy
follow
/books/n/gene/mona/
Multiple Acyl-CoA Dehydrogenase Deficiency
follow
/books/n/gene/madd/
Multiple Cutaneous and Mucosal Venous Malformations
follow
/books/n/gene/vmcm/
Multiple Endocrine Neoplasia Type 1
follow
/books/n/gene/men1/
Multiple Endocrine Neoplasia Type 2
follow
/books/n/gene/men2/
Multiple Epiphyseal Dysplasia, Autosomal Dominant
follow
/books/n/gene/edm-ad/
Multiple Epiphyseal Dysplasia, Recessive
follow
/books/n/gene/edm/
Multiple Sulfatase Deficiency
follow
/books/n/gene/m-sulfatase-def/
Myhre Syndrome
follow
/books/n/gene/myhre/
Myopathy with Deficiency of ISCU
follow
/books/n/gene/myodef-sda/
Myotonia Congenita
follow
/books/n/gene/myotonia-c/
Myotonic Dystrophy Type 1
follow
/books/n/gene/myotonic-d/
Myotonic Dystrophy Type 2
follow
/books/n/gene/myotonic-d2/
NFIA-Related Disorder
follow
/books/n/gene/nfia-dis/
NGLY1-Related Congenital Disorder of Deglycosylation
follow
/books/n/gene/ngly1-cddg/
NKX2-1-Related Disorders
follow
/books/n/gene/nkx2-1-dis/
NKX6-2-Related Disorder
follow
/books/n/gene/nkx6-2-spax/
NR0B1-Related Adrenal Hypoplasia Congenita
follow
/books/n/gene/ahc/
NSDHL-Related Disorders
follow
/books/n/gene/nsdhl-dis/
NTHL1 Tumor Syndrome
follow
/books/n/gene/nthl1-ts/
NTRK1 Congenital Insensitivity to Pain with Anhidrosis
follow
/books/n/gene/hsan4/
Nail-Patella Syndrome
follow
/books/n/gene/nail-ps/
Nephronophthisis
follow
/books/n/gene/nephron-ov/
Neurodegeneration with Brain Iron Accumulation Disorders Overview
follow
/books/n/gene/nbia-ov/
Neuroferritinopathy
follow
/books/n/gene/neuroferritin/
Neurofibromatosis 1
follow
/books/n/gene/nf1/
Neurofibromatosis 2
follow
/books/n/gene/nf2/
Nevoid Basal Cell Carcinoma Syndrome
follow
/books/n/gene/bcns/
Nicolaides-Baraitser Syndrome
follow
/books/n/gene/nbs/
Niemann-Pick Disease Type C
follow
/books/n/gene/npc/
Nijmegen Breakage Syndrome
follow
/books/n/gene/nijmegen/
Nonketotic Hyperglycinemia
follow
/books/n/gene/nkh/
Nonsyndromic 46,XX Testicular Disorders of Sex Development
follow
/books/n/gene/xxms/
Nonsyndromic Disorders of Testicular Development
follow
/books/n/gene/gonad-dys-46xy/
Nonsyndromic Hearing Loss and Deafness, DFNA3
follow
/books/n/gene/dfna3/
Nonsyndromic Hearing Loss and Deafness, DFNB1
follow
/books/n/gene/dfnb1/
Nonsyndromic Hearing Loss and Deafness, Mitochondrial
follow
/books/n/gene/mt-deafness/
Nonsyndromic Retinitis Pigmentosa Overview
follow
/books/n/gene/rp-overview/
Nonsyndromic Tooth Agenesis Overview
follow
/books/n/gene/tooth-agenesis-ov/
Noonan Syndrome
follow
/books/n/gene/noonan/
Noonan Syndrome with Multiple Lentigines
follow
/books/n/gene/leopard/
Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview
follow
/books/n/gene/leigh-nucl-ov/
OTOF-Related Deafness
follow
/books/n/gene/dfnb9/
Ocular Albinism, X-Linked
follow
/books/n/gene/x-oa/
Oculocutaneous Albinism Type 4
follow
/books/n/gene/oca4/
Oculopharyngeal Muscular Dystrophy
follow
/books/n/gene/opmd/
Optic Atrophy Type 1
follow
/books/n/gene/opa/
Oral-Facial-Digital Syndrome Type I
follow
/books/n/gene/ofd1/
Ornithine Transcarbamylase Deficiency
follow
/books/n/gene/otc-def/
Osteopathia Striata with Cranial Sclerosis
follow
/books/n/gene/os-cs/
PACS1 Neurodevelopmental Disorder
follow
/books/n/gene/pacs1-ndd/
PAFAH1B1-Related Lissencephaly/Subcortical Band Heterotopia
follow
/books/n/gene/chrom17-lis/
PAX2-Related Disorder
follow
/books/n/gene/papr/
PAX6-Related Aniridia
follow
/books/n/gene/aniridia/
PIK3CA-Related Segmental Overgrowth
follow
/books/n/gene/pik3ca-overgrowth/
PINK1 Type of Young-Onset Parkinson Disease
follow
/books/n/gene/pink1-pd/
PLA2G6-Associated Neurodegeneration
follow
/books/n/gene/inad/
PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome
follow
/books/n/gene/eds6/
PLP1 Disorders
follow
/books/n/gene/pmd/
PMM2-CDG
follow
/books/n/gene/cdg-1a/
PNPLA6 Disorders
follow
/books/n/gene/pnpla6-dis/
POLG-Related Disorders
follow
/books/n/gene/alpers/
POLR3-Related Leukodystrophy
follow
/books/n/gene/pol3-leuk/
POT1 Tumor Predisposition
follow
/books/n/gene/pot1-tpd/
PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome
follow
/books/n/gene/ppp1r12a-ubm/
PPP2R5D-Related Neurodevelopmental Disorder
follow
/books/n/gene/ppp2r5d-dis/
PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia
follow
/books/n/gene/me-ataxia/
PROP1-Related Combined Pituitary Hormone Deficiency
follow
/books/n/gene/prop1/
PRRT2-Associated Paroxysmal Movement Disorders
follow
/books/n/gene/prrt2-parox/
PRSS1-Related Hereditary Pancreatitis
follow
/books/n/gene/prss1-hp/
PTEN Hamartoma Tumor Syndrome
follow
/books/n/gene/phts/
PURA-Related Neurodevelopmental Disorders
follow
/books/n/gene/pura-dis/
Pachyonychia Congenita
follow
/books/n/gene/pc/
Pallister-Hall Syndrome
follow
/books/n/gene/phs/
Pancreatitis Overview
follow
/books/n/gene/pancreatitis-ov/
Pantothenate Kinase-Associated Neurodegeneration
follow
/books/n/gene/pkan/
Parkin Type of Early-Onset Parkinson Disease
follow
/books/n/gene/jpd/
Parkinson Disease Overview
follow
/books/n/gene/parkinson-overview/
Pelizaeus-Merzbacher-Like Disease 1
follow
/books/n/gene/pmld1/
Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct
follow
/books/n/gene/pendred/
Periodontal Ehlers-Danlos Syndrome
follow
/books/n/gene/eds-pd/
Permanent Neonatal Diabetes Mellitus
follow
/books/n/gene/dmn/
Perrault Syndrome
follow
/books/n/gene/perrault/
Peters Plus Syndrome
follow
/books/n/gene/peters-plus/
Peutz-Jeghers Syndrome
follow
/books/n/gene/pjs/
Phelan-McDermid Syndrome
follow
/books/n/gene/gr_22q13_3/
Phenylalanine Hydroxylase Deficiency
follow
/books/n/gene/pku/
Phosphoribosylpyrophosphate Synthetase Superactivity
follow
/books/n/gene/prs/
Phosphorylase Kinase Deficiency
follow
/books/n/gene/gsd9/
Pitt-Hopkins Syndrome
follow
/books/n/gene/pitt-hopkins/
Poikiloderma with Neutropenia
follow
/books/n/gene/poikiloderma-n/
Polycystic Kidney Disease, Autosomal Dominant
follow
/books/n/gene/pkd-ad/
Polycystic Kidney Disease, Autosomal Recessive
follow
/books/n/gene/pkd-ar/
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy
follow
/books/n/gene/plosl/
Polymicrogyria Overview
follow
/books/n/gene/poly/
Pompe Disease
follow
/books/n/gene/gsd2/
Potocki-Lupski Syndrome
follow
/books/n/gene/potocki-lupski/
Prader-Willi Syndrome
follow
/books/n/gene/pws/
Primary Ciliary Dyskinesia
follow
/books/n/gene/pcd/
Primary Coenzyme Q10 Deficiency
follow
/books/n/gene/coq10-def/
Primary Congenital Glaucoma
follow
/books/n/gene/glc/
Primary Familial and Congenital Polycythemia
follow
/books/n/gene/pfcp/
Primary Familial Brain Calcification
follow
/books/n/gene/bgc/
Primary Hyperoxaluria Type 1
follow
/books/n/gene/ph1/
Primary Hyperoxaluria Type 2
follow
/books/n/gene/ph2/
Primary Hyperoxaluria Type 3
follow
/books/n/gene/ph3/
Primary Mitochondrial Disorders Overview
follow
/books/n/gene/mt-overview/
Primary Pyruvate Dehydrogenase Complex Deficiency Overview
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Spinocerebellar Ataxia Type 13
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Spinocerebellar Ataxia Type 14
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Spinocerebellar Ataxia Type 17
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Spinocerebellar Ataxia Type 20
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Spinocerebellar Ataxia Type 28
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Spinocerebellar Ataxia Type 37
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Three M Syndrome
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Townes-Brocks Syndrome
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Urea Cycle Disorders Overview
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Usher Syndrome Type I
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VCAN-Related Vitreoretinopathy
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VPS13D Movement Disorder
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Vascular Ehlers-Danlos Syndrome
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WT1 Disorder
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Waardenburg Syndrome Type I
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Warsaw Syndrome
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Weill-Marchesani Syndrome
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Werner Syndrome
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White-Sutton Syndrome
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Williams Syndrome
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Wilms Tumor Predisposition
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Wilson Disease
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Woodhouse-Sakati Syndrome
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X-Linked Acrogigantism
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X-Linked Agammaglobulinemia
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X-Linked Congenital Stationary Night Blindness
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X-Linked Hyper IgM Syndrome
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X-Linked Congenital Retinoschisis
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X-Linked Opitz G/BBB Syndrome
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X-Linked Otopalatodigital Spectrum Disorders
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X-Linked Severe Combined Immunodeficiency
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Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated
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