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Home / Muscle Disorders

Muscle Disorders

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Cardiomyopathy
Centronuclear myopathies recessive - CNM
Core myopathy recessive - CM
Degenerative myopathies
Dilated cardiomyopathy- DCM
Emery Dreifuss muscular dystrophy
Hereditary myopathy with early respiratory failure - HMERF
Hypertrophic cardiomyopathy- HCM
Limb-Girdle muscular dystrophy
Muscular dystrophy
Non Compaction Cardiomyopathy
Restrictive Cardiomyopathy

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WES

Browse the catalog by disorder

Cancer Genetics
- Adenomas multiple colorectal
- Bannayan-Riley-Ruvalcaba Syndrome
- Basal Cell Nevus Syndrome – BCNS – Gorlin syndrome
- Birt-Hogg-Dubé syndrome
- Breast Cancer
- Breast-ovarian cancer – familial
- Chronic Lymphocytic Leukaemia (CLL)
- Cowden Syndrome
- Familial Adenomatous Polyposis – FAP
- Familial Adenomatous Polyposis – FAP1
- Familial nonpolyposis colon cancer – HNPCC – Lynch syndrome
- Familial nonpolyposis colon cancer – HNPCC – Lynch syndrome – Colorectal cancer hereditary nonpolyposis type 1
- Familial nonpolyposis colon cancer – HNPCC – Lynch syndrome – Colorectal cancer hereditary nonpolyposis type 2
- Familial nonpolyposis colon cancer – HNPCC – Lynch syndrome – Colorectal cancer hereditary nonpolyposis type 4
- Familial nonpolyposis colon cancer – HNPCC – Lynch syndrome – Colorectal cancer hereditary nonpolyposis type 5
- Hereditary Prostate Cancer – HPC9
- Juvenile polyposis syndrome – JPS
- Li-Fraumeni syndrome
- Li-Fraumeni syndrome (LFS)
- Ovarian cancer – familial
- Pancreatic Cancer
- Peutz-Jeghers syndrome
- PTEN hemartoma tumor syndrome
- Wilms tumor
Cardio Vascular Disorders
- Cardiac Disorders
- Lipid metabolism disorders
- Lipodystrophy
  - Lipodystrophy
- Vascular Malformations
Connective Tissue Disorders
- Aortic valve disease 1
- Arterial tortuosity syndrome
- Bone mineral density QTL18 – osteoporosis
- Brittle cornea syndrome
- Bruck syndrome
- Congenital contractural arachnodactyly
- Cutis laxa – autosomal dominant
- Cutis laxa – autosomal recessive – type IIB
- Cutis laxa autosomal dominant 2
- Cutis laxa autosomal recessive – Cutis laxa type IA
- Cutis laxa autosomal recessive – Cutis laxa type IB
- Cutis laxa autosomal recessive – Cutis laxa type IC
- Ectopia lentis
- Ehlers-Danlos syndrome – EDS
- Ehlers-Danlos syndrome kyphoscoliotic type
- Ehlers-Danlos syndrome type I – classic type
- Ehlers-Danlos syndrome type II – classic type
- Ehlers-Danlos syndrome vascular type
- Ehlers-Danlos syndrome with progressive kyphoscoliosis myopathy and hearing loss
- Geleophysic dysplasia
- Homocystinuria
- Hypophosphatasia
- Kniest dysplasia
- Larsen syndrome
- Loeys-Dietz syndrome type 1A
- Loeys-Dietz syndrome type 1B
- Loeys-Dietz syndrome type 2A
- Loeys-Dietz syndrome type 2B
- Loeys-Dietz syndrome type 3 – aneurysms-osteoarthritis syndrome
- Loeys-Dietz syndrome type 4
- Lysyl hydroxylase 3 deficiency
- Marfan Syndrome
- Marshall syndrome
- Metaphyseal chondrodysplasia Schmid type
- Multiple epiphyseal dysplasia
- Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects
- Multiple self-healing squamous epithelioma
- Osteogenesis imperfecta
- Osteogenesis imperfecta type IX
- Osteogenesis imperfecta type V
- Osteogenesis imperfecta type VIII
- Osteogenesis imperfecta type X
- Osteogenesis imperfecta type XII
- Osteoporosis – early onset
- Osteoporosis with fractures
- Osteoporosis-pseudoglioma syndrome
- Otospondylomegaepiphyseal dysplasia
- Porencephaly
- Spondylocheirodysplasia
- Spondyloepiphyseal dysplasia congenita
- Stickler syndrome
- Supravalvular aortic stenosis
- Thoracic Aortic Aneurysm with Dissection – TAAD
- van den Ende-Gupta syndrome
- Wagner syndrome
- Weill-Marchesani syndrome
- Weissenbacher-Zweymuller syndrome
Developmental Disorders
- 46XX sex reversal 1
- 46XY sex reversal 3
- 46XY sex reversal 5
- Congenital anomalies of kidney and urinary tract
- Fetal akinesia
- Fetal akinesia deformation sequence
- Jackson-Weiss syndrome
- Léri-Weill dyschondrosteosis
- SHORT STATURE – IDIOPATHIC – X-LINKED – ISS
Endocrine Disorders
- Albright hereditary osteodystrophy – AHO
- Aldosteronism glucocorticoid remediable – GRA – familial hyperaldosteronism type I
- Angelman syndrome – AS
- Bamforth Lazarus syndrome
- Central hypothyroidism
- Chondrodysplasia
- Diabetes mellitus permanent neonatal
- Fragile X syndrome
- Hyperaldosteronism familial type III
- Hyperinsulinemic hypoglycemia familial 1
- Hyperinsulinemic hypoglycemia familial 2
- Hyperinsulinemic hypoglycemia familial 3
- Hyperinsulinism
- Hyperinsulinism hyperammonemia syndrome
- Hyperthyroidism
- Hypothryoidism congenital nongoitrous 4
- Hypothyroidism
- Hypothyroidism central and testicular enlargement
- Hypothyroidism congenital due to thyroid dysgenesis or hypoplasia
- Hypothyroidism congenital nongoitrous 1
- Hypothyroidism congenital nongoitrous 4
- McCune Albright syndrome
- Microphthalmia syndromic 5
- Neonatal diabetes mellitus
- Obesity
- Obesity – morbid – due to leptin deficiency
- Obesity autosomal dominant
- Pendred syndrome with organification defect
- Pituitary hormone deficiency combined 1
- Pituitary hormone deficiency combined 2
- Pituitary hormone deficiency combined 3
- Pituitary hormone deficiency combined 4
- Pituitary hormone deficiency combined 6
- Prader Willi syndrome – PWS
- PseudohypoparathyreoÃ¯die type II
- Pseudohypoparathyroidism Ia
- Pseudohypoparathyroidism Ib
- Pseudopseudohypoparathyroidism
- Retinal dystrophy early onset and pituitary dysfunction
- Septooptic dysplasia
- Shwachman-Diamond syndrome – SBDS
- Thryoid dyshormonogenesis 5
- Thryoid dyshormonogenesis 6
- Thyroid adenoma hyperfunctioning somatic
- Thyroid dyshormonogenesis 1
- Thyroid dyshormonogenesis 2A
- Thyroid dyshormonogenesis 3
- Thyroid dyshormonogenesis 4
- Thyroid Hormone Resistance
- Thyroidal hypothyroidism
- Thyrotropin releasing hormone deficiency
- Thyrotropin releasing hormone resistance generalized
Eye Disorders
- Achromatopsia 2 – colorblindness
- Achromatopsia 3
- Albinism oculocutaneous type IA – OCA1A
- Albinism oculocutaneous type II – OCA2
- Albinism oculocutaneous type III – OCA3
- Albinism oculocutaneous type IV – OCA4
- Aniridia
- Arterial Calcification Generalized of Infancy – GACI1
- Axenfeld Rieger syndrome type 1 – RIEG1
- Axenfeld Rieger syndrome type 3 – RIEG3
- Basal laminar drusen
- Best macular dystrophy
- Cataract with late-onset corneal dystrophy
- Coloboma ocular
- Coloboma of optic nerve
- Cone-rod dystrophy 3
- Doyne Honeycomb degeneration of retina
- Ectopia lentis
- Enhanced S cone syndrome
- Foveal hyperplasia
- Gillespie syndrome
- Glaucoma 1 open angle E adult onset
- Glaucoma 1A primary open angle juvenile onset 1
- Glaucoma 3A primary open angle congenital juvenile or adult onset
- Hyperferritinemia-cataract syndrome
- Keratitis
- Leber congenital amaurosis 10 – LCA 10
- Leber congenital amaurosis 2
- Leber congenital amaurosis 8
- Leber hereditary optic neuropathy – LHON
- Macular degeneration juvenile
- Macular dystrophy patterned – Butterfly dystrophy of retinal pigment epithelium
- Microphthalmia syndromic 3
- Morning glory disc anomaly
- Night Blindness Congenital Statiionery Type 1E – CSNB1E
- Night blindness congenital stationary 1A X linked
- Night blindness congenital stationary 1B autosomal recessive
- Night blindness congenital stationary 1C autosomal recessive
- Night blindness congenital stationary 2A X linked
- Night blindness congenital stationary 2B autosomal recessive
- Ocular albinism type I – OA1
- Optic atrophy 1
- Optic atrophy 3 with cataract
- Optic nerve hypoplasia
- Optic nerve hypoplasia and abnormalities of the central nervous system
- Peters anomaly
- Pseudoxanthoma elasticum – PXE
- PXE-like disorder
- Retinitis pigmentosa
- Retinitis pigmentosa 12 autosomal recessive
- Retinitis pigmentosa 19
- Retinitis pigmentosa 2
- Retinitis pigmentosa 20
- Retinitis pigmentosa 25 – RP25
- Retinitis pigmentosa 3 – Retinitis pigmentosa 15 – Retinitis pigmentosa X linked
- Retinitis pigmentosa 37
- Retinitis pigmentosa 38 – RP38
- Retinitis pigmentosa 39 – RP39
- Retinitis pigmentosa 4 autosomal dominant or recessive
- Retinitis pigmentosa 40 – RP40
- Retinitis pigmentosa 43 – RP43
- Retinitis pigmentosa 7
- Retinoschisis – Retinoschisis X linked
- Stargardt disease 1
- Stargardt disease 3 – Stargardt like macular dystrophy
- Trichorhinophalangeal syndrome type I
- Trichorhinophalangeal syndrome type III
- TRP syndrome
- Vitreoretinochoroidopathy
Hematologic Disorders
- Blackfan-Diamond anemia
- Diamond-Blackfan anemia 1 – DBA1
- Diamond-Blackfan anemia 10 – DBA10
- Diamond-Blackfan anemia 3 – DBA3
- Diamond-Blackfan anemia 4 – DBA4
- Diamond-Blackfan anemia 5 – DBA5
- Diamond-Blackfan anemia 6 – DBA6
- Diamond-Blackfan anemia 7 – DBA7
- Diamond-Blackfan anemia 8 – DBA8
- Diamond-Blackfan anemia 9 – DBA9
- Fanconi anemia A – FANCA
- Fanconi anemia B – FANCB
- Fanconi anemia C – FANCC
- Fanconi anemia E – FANCE
- Fanconi anemia F – FANCF
- Fanconi anemia G – FANCG
- Fanconi anemia I – FANCI
- Fanconi anemia J – FANCJ
- Fanconi anemia L – FANCL
- Fanconi anemia M – FANCM
- Fanconi anemia N – FANCN
- Fanconi anemia O – FANCO
- Hemophilia A
- Methemoglobinemia – Cytochrome b5 reductase deficiency
- Neutropenia
- Neutropenia cyclic
- Neutropenia severe congenital 1 autosomal dominant
- Neutropenia severe congenital 2 autosomal dominant
- Neutropenia severe congenital 3 autosomal recessive
- Neutropenia severe congenital 4 autosomal recessive
- Neutropenia severe congenital X-linked
- Shwachman-Diamond syndrome – SBDS
Immunologic Disorders
- Angioedema hereditary type III
- Angioedema hereditary types I and II
- Hyper IgE recurrent infection syndrome autosomal recessive
- Hyper-IgD syndrome – Hyperimmunoglobulinaemia D and periodic fever
- Hyper-IgE recurrent infection syndrome
- Properdin deficiency X linked
- Vici syndrome
Liver and Bowel Disorders
- Cholestasis benign recurrent intrahepatic 1
- Cholestasis benign recurrent intrahepatic 2
- Cholestasis intrahepatic of pregnancy
- Cholestasis intrahepatic of pregnancy 3
- Cholestasis progressive familial intrahepatic 1
- Cholestasis progressive familial intrahepatic 2
- Cholestasis progressive familial intrahepatic 3
- Gallbladder disease 1 – LPAC syndrome
- Hypercholanemia familial – FHCA
Lymphatic Disorders
- Hennekam lymphangiectasia lymphedema syndrome – Hennekam syndrome
- Hypotrichosis-lymphedema-telangiectasia syndrome
- Lymphedema – hereditary
- Lymphedema-distichiasis syndrome
- Venous malformations
Malformations
- Cornelia de Lange syndrome
- Developmental Disorders
- Dysmorphology Disorders
- Genital anomalies
  - Denys Drash Syndrome – DDS
  - Frasier syndrome
- Growth Disorders
- Skeletal Disorders
  - Desbuquois dysplasia 2
  - Greenberg skeletal dysplasia – HEM skeletal dysplasia
Metabolic Disorders
- 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
- 3-hydroxyisobutyrate dehydrogenase deficiency
- 3-hydroxyisobutyryl-CoA hydrolase deficiency
- 3-methylcrotonyl-CoA carboxylase 1 deficiency – MCC1 deficiency
- 3-methylcrotonyl-CoA carboxylase 2 deficiency – MCC2 deficiency
- 3-methylglutaconyl-CoA hydratase deficiency – 3-methylglutacon aciduria type 1
- Acute recurrent rhabdomyolysis – Myoglobinuria acute recurrent
- Acyl-CoA oxidase deficiency
- Adenine phosphoribosyltransferase deficiency
- Adenosine deaminase deficiency
- Adrenoleukodystrophy X-linked
- Alpha-methylacyl-CoA racemase deficiency
- Argininosuccinate lyase deficiency
- Aromatic-L-amino-acid decarboxylase deficiency
- Beta-ureidopropionase deficiency
- Brown-Vialetto-Van Laere syndrome 1
- Brown-Vialetto-Van Laere syndrome 2 – Riboflavine transporter defect
- Carnitine palmitoyltransferase 2 deficiency
- Carnitine palmitoyltransferase I deficiency
- Carnitine-acylcarnitine translocase deficiency
- CHILD syndrome
- Chitotriosidase deficiency
- Chondrodysplasia punctata 2 – CDPX2 – Conradi-Hunermann-Happle syndrome
- CK syndrome
- D-bifunctional protein deficiency – DBPD
- Desmosterolosis
- Dihydropyrimidinase Deficiency
- Dihydropyrimidine dehydrogenase deficiency
- Dopa responsive dystonia
- Ethylmalonic encephalopathy
- Galactokinase deficiency
- Galactosemia
- Glutaric acidemia type IIA
- Glutaric acidemia type IIB
- Glutaric acidemia type IIC
- Glutaric aciduria type 1 – Glutaric acidemia type 1 – Glutaryl-CoA dehydrogenase deficiency
- Glycogen storage disease type 0 – GSD 0
- Glycogen storage disease X – Phosphoglycerate mutase deficiency muscle specific
- Hereditary fructose intolerance
- Holocarboxylase synthetase deficiency
- HPRT-related gout – Hypoxanthine-guanine phosphoribosyl transferase deficiency
- Hyperlysinemia
- Hypothyroidism
- Isovaleric acidemia – Isovaleryl-CoA dehydrogenase deficiency
- Lathosterolosis
- Lesch-Nyhan syndrome
- Lipid metabolism disorders
  - Cerebrotendinous xanthomatosis
  - Cholestasis
  - Chylomicron retention disease
  - Hyperalphalipoproteinemia
  - Hypertriglyceridemia
  - Hypoalphalipoproteinemia
  - Hypobetalipoproteinemia
- Lipodystrophy
- Lysosomal storage disorders
  - Danon disease
  - Fabry Disease
  - Gaucher disease
  - Niemann Pick disease type A
  - Niemann Pick disease type B
  - Niemann Pick disease type C1
  - Niemann Pick disease type C2
- Malignant hyperphenylalaninemia – GTP cyclohydrolase I deficiency
- Medium-chain acyl-Coenzyme A dehydrogenase deficiency
- Methylmalonyl-CoA epimerase deficiency – Methylmalonic aciduria III
- Mevalonate kinase deficiency
- Mevalonic aciduria
- Mitochondrial DNA depletion syndrome 9 – SUCLG1 deficiency
- Mitochondrial trifunctional protein deficiency
- Monocarboxylate transporter member 1 (MCT1) deficiency
- Multiple acyl-CoA dehydrogenase deficiency
- Niemann Pick disease type A
- Niemann Pick disease type B
- Niemann Pick disease type C1
- Niemann Pick disease type C2
- Peroxisome biogenesis disorder 10A
- Peroxisome biogenesis disorder 11A
- Peroxisome biogenesis disorder 12A
- Peroxisome biogenesis disorder 13A
- Peroxisome biogenesis disorder 14B
- Peroxisome biogenesis disorder 1A
- Peroxisome biogenesis disorder 3A
- Peroxisome biogenesis disorder 4A
- Peroxisome biogenesis disorder 5A
- Peroxisome biogenesis disorder 6A
- Peroxisome biogenesis disorder 7A
- Peroxisome biogenesis disorder 8A
- Peroxisome biogenesis disorder 9B – Refsum disease
- Phosphoribosyl pyrophosphate synthetase 1 superactivity
- Phytanoyl-CoA 2-hydroxylase deficiency – Refsum disease
- Primary carnitine deficiency
- Primary hyperoxaluria type 1
- Primary hyperoxaluria type II
- Primary hyperoxaluria type III
- Purine nucleoside phosphorylase deficiency
- Rhizomelic chondrodysplasia punctata type 1 – RCDP1
- Rhizomelic chondrodysplasia punctata type 2 – RCDP2
- Rhizomelic chondrodysplasia punctata type 3 – RCDP3
- Riboflavin deficiency
- Short Chain Acyl-CoA Dehydrogenase Deficiency
- Sjogren-Larsson syndrome
- Smith-Lemli-Opitz syndrome – SLOS
- SUCLA2 deficiency – Myopathic mitochondrial DNA depletion syndrome
- Thymidine phosphorylase deficiency – Mitochondrial neurogastrointestinal encephalomyopathy
- Tyrosine hydroxylase deficiency – Segawa syndrome
- Very-long-chain acyl-Coenzyme A dehydrogenase deficiency – VLCAD deficiency
- Zellweger spectrum disorders
- Zellweger syndrome
Muscle Disorders
- Cardiomyopathy
- Centronuclear myopathies recessive – CNM
- Core myopathy recessive – CM
- Degenerative myopathies
  - Emery Dreifuss muscular dystrophy
  - Limb-Girdle muscular dystrophy
- Dilated cardiomyopathy- DCM
- Emery Dreifuss muscular dystrophy
- Hereditary myopathy with early respiratory failure – HMERF
- Hypertrophic cardiomyopathy- HCM
- Limb-Girdle muscular dystrophy
- Muscular dystrophy
- Non Compaction Cardiomyopathy
- Restrictive Cardiomyopathy
Nephropathies
- Denys Drash Syndrome – DDS
- Frasier syndrome
- Wilms tumor
Neurological Disorders
- Aicardi-Goutières syndrome 1
- Aicardi-Goutières syndrome 2
- Aicardi-Goutières syndrome 3
- Aicardi-Goutières syndrome 4
- Aicardi-Goutières syndrome 5
- Aicardi-Goutières syndrome 6
- Alzheimer Disease
- Amyloidosis hereditary transthyretin-related
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis 1
- Amyotrophic lateral sclerosis 10 – ALS10
- Amyotrophic lateral sclerosis 10 – with or without FTD
- Amyotrophic lateral sclerosis 14 – ALS14
- Amyotrophic lateral sclerosis 4 juvenile – ALS4
- Amyotrophic lateral sclerosis 6 – ALS6
- Amyotrophic lateral sclerosis type 9 – ALS9
- Amyotrophy hereditary neuralgic
- Angelman syndrome – AS
- Ataxia-ocular apraxia 2-Spinocerebellar ataxia autosomal recessive 1- SCAR1
- Brown-Vialetto-Van Laere syndrome 1
- Brown-Vialetto-Van Laere syndrome 2 – Riboflavine transporter defect
- Charcot Marie Tooth – CMT
  - Charcot-Marie-Tooth disease – CMT NGS panel
  - Charcot-Marie-Tooth disease axonal type 2F – CMT2F
  - Charcot-Marie-Tooth disease axonal type 2K – CMT2K
  - Charcot-Marie-Tooth disease axonal type 2L – CMT2L
  - Charcot-Marie-Tooth disease axonal type 2M – CMT2M
  - Charcot-Marie-Tooth disease axonal type 2P – CMT2P
  - Charcot-Marie-Tooth disease type 1A – CMT1A
  - Charcot-Marie-Tooth disease type 1B – CMT1B
  - Charcot-Marie-Tooth disease type 1C – CMT1C
  - Charcot-Marie-Tooth disease type 1D – CMT1D
  - Charcot-Marie-Tooth disease type 1F – CMT1F
  - Charcot-Marie-Tooth disease type 2A2 – CMT2A2
  - Charcot-Marie-Tooth disease type 2B – CMT2B
  - Charcot-Marie-Tooth disease type 2B1 – CMT2B1
  - Charcot-Marie-Tooth disease type 2D – CMT2D
  - Charcot-Marie-Tooth disease type 2E – CMT2E
  - Charcot-Marie-Tooth disease type 2I – CMT2I
  - Charcot-Marie-Tooth disease type 2IJ – CMT2J
  - Charcot-Marie-Tooth disease Type 4A – CMT4A
  - Charcot-Marie-Tooth disease type 4B1 – CMT4B1
  - Charcot-Marie-Tooth disease type 4C – CMT4C
  - Charcot-Marie-Tooth disease type 4D – CMT4D
  - Charcot-Marie-Tooth disease type 4H – CMT4H
  - Charcot-Marie-Tooth disease type 4J – CMT4J
  - Charcot-Marie-Tooth disease X-linked dominant type 1 – CMT1C
- Choreoathetosis hypothyroidism and neonatal respiratory distress
- CNS Abnormalities
- Congenital cataracts facial dysmorphism and neuropathy – CCFDN
- Creutzfeldt Jakob disease
- Cystic leukoencephalopathy without megalencephaly
- Dementia – Lewy body
- Distal hereditary motor neuropathy type 5 – DHMN
- Dysautonomia familial – Riley Day syndrome
- Dystonia 1 torsion – DYT1
- Dystonia 11 myoclonic – DYT11
- Dystonia 6 torsion – DYT6
- Epileptic encephalopathy – early infantile – 11
- Epileptic encephalopathy – early infantile – 25
- Epileptic encephalopathy early infantile 2 – Rett syndrome atypical
- Familial Amyloid Polyneuropathy
- Fragile X syndrome
- Fragile X tremor/ataxia syndrome
- Frontotemporal Dementia – FTD
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 – FTDALS1
- Frontotemporal lobar degeneration with ubiquitin-positive inclusions
- Goiter familial due to TTF1 defect
- Hereditary benign chorea
- Hereditary motor and sensory neuropathy type IIc – HMSN2C
- Hypomyelination with Spondylometaphyseal Dysplasia
- Intellectual developmental disorder with dysmorphic facies and ptosis
- Intellectual Disability
  - Achondroplasia
  - Angelman syndrome – AS
  - Apert syndrome
  - Autism
  - Blepharophimosi ptosis and epicanthus inversus syndrome – BPES
  - Carpenter syndrome 1 – CRPT1
  - Cornelia de Lange syndrome
  - Cornelia de Lange syndrome 1 – CDLS1
  - Cornelia de Lange syndrome 2 – CDLS2
  - Cornelia de Lange syndrome 5 – CDLS5
  - Craniosynostosis 4
  - Crouzon syndrome
  - DiGeorge syndrome
  - Fragile X syndrome
  - Fragile X tremor/ataxia syndrome
  - Hypochondrioplasia
  - Jackson-Weiss syndrome
  - Langer Mesomelic dysplasia
  - Mental Retardation
  - Muenke syndrome
  - Nicolaides Baraitser syndrome
  - Pfeiffer syndrome
  - Prader Willi syndrome – PWS
  - Saethre-Chotzen syndrome – SCS
  - Supravalvular aortic stenosis
  - Thanatophoric Dysplasia
  - van der Woude Syndrome1-VWS1
  - Williams-Beuren syndrome
- L-Ferritin deficiency
- Mental retardation and microcephaly with pontine and cerebellar hypoplasia
- Microcephaly
- Microcephaly 1 primary autosomal recessive
- Microcephaly 5 primary autosomal recessive
- Microcephaly 6 primary autosomal recessive
- Microcephaly 7 primary autosomal recessive
- Myotubular myopathy X-linked
- Neurodegeneration with brain iron accululation 5
- Neurodegeneration with brain iron accumulation 1
- neurodegeneration with brain iron accumulation 2A
- Neurodegeneration with brain iron accumulation 2B
- Neurodegeneration with brain iron accumulation 3
- Neurodegeneration with brain iron accumulation 4
- Neurodegeneration with brain iron accumulation 6
- Neuropathy distal hereditary motor type IIA
- Neuropathy distal hereditary motor type IIB
- Neuropathy hereditary sensory and autonomic type IA – HSAN1A
- Neuropathy hereditary sensory and autonomic type II – HSAN IIA
- Neuropathy hereditary sensory and autonomic type V – HSAN V
- Neuropathy recurrent with pressure palsies – HNPP
- Parkinson Disease 1 Autosomal Dominant
- Parkinson Disease 2 Autosomal Recessive
- Parkinson Disease 4 Autosomal Dominant
- Parkinson Disease 6 Autosomal Recessive
- Parkinson Disease 7 Autosomal Recessive
- Parkinson Disease 8 Autosomal Dominant
- Peroxisome biogenesis disorder 10A
- Peroxisome biogenesis disorder 11A
- Peroxisome biogenesis disorder 12A
- Peroxisome biogenesis disorder 13A
- Peroxisome biogenesis disorder 14B
- Peroxisome biogenesis disorder 1A
- Peroxisome biogenesis disorder 3A
- Peroxisome biogenesis disorder 4A
- Peroxisome biogenesis disorder 5A
- Peroxisome biogenesis disorder 6A
- Peroxisome biogenesis disorder 7A
- Peroxisome biogenesis disorder 8A
- Pick disease
- Pontocerebellar hypoplasia – PCH
- Pontocerebellar hypoplasia type 1A – PCH1A
- Pontocerebellar hypoplasia type 1B – PCH1B
- Pontocerebellar hypoplasia type 2A – PCH2A
- Pontocerebellar hypoplasia type 2B – PCH2B
- Pontocerebellar hypoplasia type 2C – PCH2C
- Pontocerebellar hypoplasia type 2D – PCH2D
- Pontocerebellar hypoplasia type 4 – PCH4
- Pontocerebellar hypoplasia type 6
- Prader Willi syndrome – PWS
- Rett syndrome
- Rett syndrome congenital variant
- Riboflavin deficiency
- Scapuloperoneal spinal muscular atrophy
- Spinal muscular atrophy
- Tay Sachs disease
- Treatable Metabolic Neurodegenerative Disorders
- White Matter Disorders
  - Aicardi-Goutières syndrome 1
  - Aicardi-Goutières syndrome 2
  - Aicardi-Goutières syndrome 3
  - Aicardi-Goutières syndrome 4
  - Aicardi-Goutières syndrome 5
  - Aicardi-Goutières syndrome 6
  - Aicardi-Goutières syndrome 7
  - Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)
  - Cystic leukoencephalopathy without megalencephaly
  - Hereditary diffuse leukoencephalopathy with spheroids
  - Hypomyelinating Leukodystrophy type 11 – 4H syndrome
  - Hypomyelinating Leukodystrophy type 16
  - Hypomyelinating Leukodystrophy type 2
  - Hypomyelinating Leukodystrophy type 3
  - Hypomyelinating Leukodystrophy type 4
  - Hypomyelinating Leukodystrophy type 5
  - Hypomyelinating Leukodystrophy type 6
  - Hypomyelinating Leukodystrophy type 7 – 4H syndrome
  - Hypomyelinating Leukodystrophy type 8
  - Leukodystrophy – adult-onset – autosomal dominant
  - Leukodystrophy – hypomyelinating – 14
  - Leukoencephalopathy – diffuse hereditary – with spheroids
  - Leukoencephalopathy with ataxia
  - Pelizaeus-Merzbacher disease
  - Spastic Paraplegia type 2 X linked
  - Spastic Paraplegia type 35
- Zellweger spectrum disorders
- Zellweger syndrome
Pulmonary Disease
- Ciliary dyskinesia – primary – 1 – with or without situs inversus
- Ciliary dyskinesia – primary – 2
- Ciliary dyskinesia – primary – 3 – with or without situs inversus
- Ciliary dyskinesia – primary – 5
- Ciliary dyskinesia – primary – 7 – with or without situs inversus
- Ciliary dyskinesia – primary – 9 – with or without situs inversus
- Cystic Fibrosis
- Pulmonary hypertension – PPH1
- Pulmonary hypertension – PPH2
- Surfactant protein B deficiency – pulmonary surfactant metabolism dysfunction
Reproductive Genetics & Infertility
- Infertility
- Reproductive Genetics
Skin Disorders
- Basal Cell Nevus Syndrome – BCNS – Gorlin syndrome
- Birt-Hogg-Dubé syndrome
- Goltz-Gorlin Syndrome – Focal Dermal Hypoplasia – FDH
- Hypotrichosis-lymphedema-telangiectasia syndrome
Uncategorized
Urological Disorders
- Congenital anomalies of kidney and urinary tract
- Oligospermia
- Oligozoospermia

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