MNG Laboratories (Medical Neurogenetics, LLC.)
General information
MNG Laboratories (Medical Neurogenetics, LLC.)
5424 Glenridge Dr
Atlanta
Georgia
United States - 30342
http://www.mnglabs.labcorp.com/
Organization ID: 303161
5424 Glenridge Dr
Atlanta
Georgia
United States - 30342
http://www.mnglabs.labcorp.com/
Organization ID: 303161
Personnel
- MNG Laboratories, Contact
Phone: 678-381-2506
Email: msnyder@mnglabs.com - Trey Langley, Contact
Phone: 6783812506
Email: tlangley@mnglabs.com
Summary of submissions to ClinVar
Total submissions: 0
Testing in GTR
Disease name | Number of tests |
---|---|
3-Methylglutaconic aciduria type 2 | 1 test |
3-methylcrotonyl-CoA carboxylase 1 deficiency | 1 test |
3-methylglutaconic aciduria type 8 | 1 test |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 1 test |
3M syndrome 1 | 1 test |
3M syndrome 2 | 1 test |
3M syndrome 3 | 1 test |
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency | 3 tests |
ABri amyloidosis | 1 test |
ADan amyloidosis | 1 test |
ALG1-congenital disorder of glycosylation | 1 test |
ALG11-congenital disorder of glycosylation | 1 test |
ALG12-congenital disorder of glycosylation | 1 test |
ALG2-congenital disorder of glycosylation | 1 test |
ALG3-congenital disorder of glycosylation | 1 test |
ALG6-congenital disorder of glycosylation 1C | 1 test |
ALG8 congenital disorder of glycosylation | 1 test |
ALG9 congenital disorder of glycosylation | 1 test |
Abortive cerebellar ataxia | 3 tests |
Achondrogenesis type II | 1 test |
Achondroplasia | 1 test |
Acquired hemoglobin H disease | 1 test |
Acrocallosal syndrome | 1 test |
Acrocapitofemoral dysplasia | 1 test |
Acromicric dysplasia | 1 test |
Actin accumulation myopathy | 2 tests |
Action myoclonus-renal failure syndrome | 1 test |
Acute intermittent porphyria | 1 test |
Acyl-CoA dehydrogenase 9 deficiency | 1 test |
Adenylosuccinate lyase deficiency | 1 test |
Adult hypophosphatasia | 1 test |
Adult neuronal ceroid lipofuscinosis | 1 test |
Adult polyglucosan body disease | 1 test |
Aicardi Goutieres syndrome | 1 test |
Aicardi-Goutieres syndrome 1 | 2 tests |
Aicardi-Goutieres syndrome 2 | 2 tests |
Aicardi-Goutieres syndrome 3 | 2 tests |
Aicardi-Goutieres syndrome 4 | 2 tests |
Aicardi-Goutieres syndrome 5 | 2 tests |
Aicardi-Goutieres syndrome 6 | 2 tests |
Aicardi-Goutieres syndrome 7 | 1 test |
Alexander disease | 1 test |
Alpha thalassemia-X-linked intellectual disability syndrome | 1 test |
Alternating hemiplegia of childhood 1 | 3 tests |
Alternating hemiplegia of childhood 2 | 1 test |
Alzheimer disease | 1 test |
Alzheimer disease 2 | 1 test |
Alzheimer disease 3 | 2 tests |
Alzheimer disease 4 | 2 tests |
Alzheimer disease 9 | 2 tests |
Amish lethal microcephaly | 2 tests |
Amyotrophic lateral sclerosis | 1 test |
Amyotrophic lateral sclerosis type 1 | 1 test |
Amyotrophic lateral sclerosis type 10 | 2 tests |
Amyotrophic lateral sclerosis type 11 | 1 test |
Amyotrophic lateral sclerosis type 12 | 1 test |
Amyotrophic lateral sclerosis type 15 | 1 test |
Amyotrophic lateral sclerosis type 16 | 1 test |
Amyotrophic lateral sclerosis type 18 | 1 test |
Amyotrophic lateral sclerosis type 19 | 1 test |
Amyotrophic lateral sclerosis type 2, juvenile | 1 test |
Amyotrophic lateral sclerosis type 20 | 1 test |
Amyotrophic lateral sclerosis type 21 | 1 test |
Amyotrophic lateral sclerosis type 4 | 1 test |
Amyotrophic lateral sclerosis type 5 | 2 tests |
Amyotrophic lateral sclerosis type 6 | 1 test |
Amyotrophic lateral sclerosis type 8 | 1 test |
Amyotrophic lateral sclerosis type 9 | 1 test |
Amyotrophic lateral sclerosis-parkinsonism-dementia complex | 1 test |
Amyotrophic neuralgia | 1 test |
Andersen Tawil syndrome | 1 test |
Angelman syndrome | 1 test |
Anophthalmia/microphthalmia-esophageal atresia syndrome | 2 tests |
Anxiety | 1 test |
Apparent mineralocorticoid excess | 1 test |
Arginase deficiency | 1 test |
Arginine:glycine amidinotransferase deficiency | 2 tests |
Argininosuccinate lyase deficiency | 1 test |
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 1 test |
Ateleiotic dwarfism | 2 tests |
Atrial fibrillation, familial, 10 | 1 test |
Atrial fibrillation, familial, 13 | 1 test |
Attention deficit hyperactivity disorder | 1 test |
Attention deficit-hyperactivity disorder, susceptibility to, 7 | 1 test |
Atypical hemolytic-uremic syndrome | 1 test |
Autism, susceptibility to, 17 | 1 test |
Autism, susceptibility to, X-linked 3 | 4 tests |
Autosomal dominant Alport syndrome | 1 test |
Autosomal dominant Parkinson disease 1 | 1 test |
Autosomal dominant isolated somatotropin deficiency | 2 tests |
Autosomal dominant nonsyndromic hearing loss 17 | 1 test |
Autosomal dominant nonsyndromic hearing loss 69 | 1 test |
Autosomal dominant optic atrophy classic form | 3 tests |
Autosomal dominant pseudohypoaldosteronism type 1 | 1 test |
Autosomal recessive Alport syndrome | 1 test |
Autosomal recessive DOPA responsive dystonia | 3 tests |
Autosomal recessive ataxia due to ubiquinone deficiency | 1 test |
Autosomal recessive distal spinal muscular atrophy 1 | 1 test |
Autosomal recessive early-onset Parkinson disease 7 | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2A | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2B | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2C | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2D | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2E | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2F | 3 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2G | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2I | 2 tests |
Autosomal recessive limb-girdle muscular dystrophy type 2K | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2M | 1 test |
Autosomal recessive limb-girdle muscular dystrophy type 2N | 1 test |
Autosomal recessive nonsyndromic hearing loss 4 | 1 test |
Autosomal recessive optic atrophy, OPA7 type | 1 test |
Autosomal recessive pseudohypoaldosteronism type 1 | 1 test |
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 1 test |
Autosomal recessive spastic paraplegia type 78 | 1 test |
Azorean disease | 3 tests |
Bartter disease type 1 | 1 test |
Bartter disease type 2 | 3 tests |
Bartter disease type 3 | 3 tests |
Bartter disease type 4A | 2 tests |
Bartter disease type 4B | 4 tests |
Basal ganglia calcification, idiopathic, 4 | 1 test |
Basal ganglia calcification, idiopathic, 5 | 1 test |
Basal ganglia calcification, idiopathic, 6 | 1 test |
Becker muscular dystrophy | 1 test |
Benign recurrent intrahepatic cholestasis type 2 | 1 test |
Bernard Soulier syndrome | 1 test |
Beta-D-mannosidosis | 1 test |
Bethlem myopathy 1 | 1 test |
Bilateral parasagittal parieto-occipital polymicrogyria | 1 test |
Blepharospasm | 1 test |
Bloom syndrome | 1 test |
Brachydactyly type A1 | 1 test |
Brugada syndrome 1 | 1 test |
Brugada syndrome 5 | 1 test |
Brunner syndrome | 1 test |
CARASIL syndrome | 1 test |
CBL-related disorder | 1 test |
CHARGE association | 1 test |
Capillary malformation-arteriovenous malformation 1 | 1 test |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | 2 tests |
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 | 2 tests |
Cardiofaciocutaneous syndrome 3 | 1 test |
Cardiofaciocutaneous syndrome 4 | 1 test |
Carney-Stratakis syndrome | 3 tests |
Carnitine acylcarnitine translocase deficiency | 1 test |
Carnitine palmitoyl transferase 1A deficiency | 1 test |
Carnitine palmitoyl transferase II deficiency, myopathic form | 2 tests |
Carnitine palmitoyl transferase II deficiency, neonatal form | 2 tests |
Carnitine palmitoyl transferase II deficiency, severe infantile form | 2 tests |
Central core myopathy | 3 tests |
Cerebral amyloid angiopathy, APP-related | 3 tests |
Cerebral cavernous malformation | 1 test |
Cerebral cavernous malformation 2 | 1 test |
Cerebral cavernous malformation 3 | 1 test |
Cerebral folate transport deficiency | 3 tests |
Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | 1 test |
Ceroid lipofuscinosis, neuronal, 6A | 1 test |
Channelopathy-associated congenital insensitivity to pain, autosomal recessive | 2 tests |
Charcot-Marie-Tooth disease X-linked dominant 1 | 3 tests |
Charcot-Marie-Tooth disease axonal type 2F | 1 test |
Charcot-Marie-Tooth disease axonal type 2X | 1 test |
Charcot-Marie-Tooth disease dominant intermediate D | 2 tests |
Charcot-Marie-Tooth disease type 1B | 2 tests |
Charcot-Marie-Tooth disease type 1C | 1 test |
Charcot-Marie-Tooth disease type 1E | 3 tests |
Charcot-Marie-Tooth disease type 1F | 1 test |
Charcot-Marie-Tooth disease type 2A2 | 2 tests |
Charcot-Marie-Tooth disease type 2B | 1 test |
Charcot-Marie-Tooth disease type 2B1 | 1 test |
Charcot-Marie-Tooth disease type 2D | 2 tests |
Charcot-Marie-Tooth disease type 2E | 1 test |
Charcot-Marie-Tooth disease type 2I | 2 tests |
Charcot-Marie-Tooth disease type 2J | 2 tests |
Charcot-Marie-Tooth disease type 4F | 1 test |
Charcot-Marie-Tooth disease type 4K | 1 test |
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | 2 tests |
Charcot-Marie-Tooth disease, dominant intermediate G | 1 test |
Charcot-Marie-Tooth disease, type IA | 3 tests |
Childhood apraxia of speech | 1 test |
Childhood hypophosphatasia | 1 test |
Childhood onset GLUT1 deficiency syndrome 2 | 6 tests |
Citrullinemia type I | 1 test |
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency | 1 test |
Classic dopamine transporter deficiency syndrome | 4 tests |
Cobalamin C disease | 2 tests |
Cobblestone lissencephaly without muscular or ocular involvement | 1 test |
Coenzyme Q10 deficiency | 1 test |
Coenzyme Q10 deficiency, primary, 1 | 2 tests |
Coenzyme Q10 deficiency, primary, 3 | 1 test |
Cold-induced sweating syndrome 1 | 1 test |
Combined deficiency of sialidase AND beta galactosidase | 1 test |
Combined oxidative phosphorylation defect type 11 | 1 test |
Combined oxidative phosphorylation defect type 13 | 1 test |
Combined oxidative phosphorylation defect type 14 | 1 test |
Combined oxidative phosphorylation defect type 15 | 1 test |
Combined oxidative phosphorylation defect type 17 | 1 test |
Combined oxidative phosphorylation defect type 2 | 2 tests |
Combined oxidative phosphorylation defect type 20 | 1 test |
Combined oxidative phosphorylation defect type 21 | 1 test |
Combined oxidative phosphorylation defect type 23 | 1 test |
Combined oxidative phosphorylation defect type 24 | 1 test |
Combined oxidative phosphorylation defect type 25 | 1 test |
Combined oxidative phosphorylation defect type 27 | 1 test |
Combined oxidative phosphorylation defect type 30 | 1 test |
Combined oxidative phosphorylation defect type 4 | 2 tests |
Combined oxidative phosphorylation defect type 7 | 1 test |
Combined oxidative phosphorylation defect type 8 | 1 test |
Combined oxidative phosphorylation defect type 9 | 1 test |
Combined oxidative phosphorylation deficiency 19 | 1 test |
Combined oxidative phosphorylation deficiency 28 | 1 test |
Combined oxidative phosphorylation deficiency 29 | 1 test |
Combined oxidative phosphorylation deficiency 32 | 1 test |
Combined oxidative phosphorylation deficiency 39 | 1 test |
Combined oxidative phosphorylation deficiency 44 | 2 tests |
Compton-North congenital myopathy | 1 test |
Congenital brain dysgenesis due to glutamine synthetase deficiency | 2 tests |
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 1 test |
Congenital central hypoventilation | 1 test |
Congenital disorder of glycosylation type 1E | 1 test |
Congenital disorder of glycosylation type Ir | 1 test |
Congenital disorder of glycosylation, type ICC | 1 test |
Congenital dyserythropoietic anemia | 1 test |
Congenital hyperammonemia, type I | 1 test |
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | 2 tests |
Congenital multicore myopathy with external ophthalmoplegia | 3 tests |
Congenital muscular dystrophy due to LMNA mutation | 1 test |
Congenital muscular dystrophy with intellectual disability and severe epilepsy | 1 test |
Congenital muscular hypertrophy-cerebral syndrome | 1 test |
Congenital myasthenic syndrome 10 | 2 tests |
Congenital myasthenic syndrome 11 | 1 test |
Congenital myasthenic syndrome 12 | 1 test |
Congenital myasthenic syndrome 14 | 1 test |
Congenital myasthenic syndrome 16 | 3 tests |
Congenital myasthenic syndrome 17 | 1 test |
Congenital myasthenic syndrome 18 | 1 test |
Congenital myasthenic syndrome 19 | 1 test |
Congenital myasthenic syndrome 20 | 1 test |
Congenital myasthenic syndrome 2A | 1 test |
Congenital myasthenic syndrome 2C | 1 test |
Congenital myasthenic syndrome 3A | 1 test |
Congenital myasthenic syndrome 3B | 1 test |
Congenital myasthenic syndrome 3C | 1 test |
Congenital myasthenic syndrome 4A | 1 test |
Congenital myasthenic syndrome 4B | 1 test |
Congenital myasthenic syndrome 4C | 1 test |
Congenital myasthenic syndrome 5 | 1 test |
Congenital myasthenic syndrome 7 | 1 test |
Congenital myasthenic syndrome 8 | 1 test |
Congenital myasthenic syndrome 9 | 1 test |
Congenital myopathy 4B, autosomal recessive | 1 test |
Congenital myopathy with fiber type disproportion | 1 test |
Congenital myotonia, autosomal dominant form | 2 tests |
Congenital myotonia, autosomal recessive form | 2 tests |
Constitutional megaloblastic anemia with severe neurologic disease | 2 tests |
Cornelia de Lange syndrome 1 | 1 test |
Cornelia de Lange syndrome 3 | 1 test |
Cornelia de Lange syndrome 4 | 1 test |
Cornelia de Lange syndrome 5 | 1 test |
Corticosterone 18-monooxygenase deficiency | 1 test |
Corticosterone methyloxidase type 2 deficiency | 1 test |
Creatine transporter deficiency | 3 tests |
Cutis laxa with osteodystrophy | 1 test |
Cystathioninuria | 1 test |
Cytochrome-c oxidase deficiency disease | 5 tests |
D-2-hydroxyglutaric aciduria 1 | 1 test |
DK1-congenital disorder of glycosylation | 1 test |
DPAGT1-congenital disorder of glycosylation | 1 test |
DPM3-congenital disorder of glycosylation | 1 test |
Danon disease | 1 test |
Deafness dystonia syndrome | 1 test |
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome | 1 test |
Deficiency of 3-hydroxyacyl-CoA dehydrogenase | 1 test |
Deficiency of alpha-mannosidase | 1 test |
Deficiency of aromatic-L-amino-acid decarboxylase | 3 tests |
Deficiency of butyryl-CoA dehydrogenase | 1 test |
Deficiency of guanidinoacetate methyltransferase | 3 tests |
Deficiency of hyaluronoglucosaminidase | 1 test |
Deficiency of hydroxymethylglutaryl-CoA lyase | 1 test |
Deficiency of isobutyryl-CoA dehydrogenase | 1 test |
Deficiency of malonyl-CoA decarboxylase | 1 test |
Deficiency of steroid 11-beta-monooxygenase | 1 test |
Dejerine-Sottas disease | 6 tests |
Dent disease type 1 | 1 test |
Dentatorubral-pallidoluysian atrophy | 4 tests |
Developmental and epileptic encephalopathy, 1 | 2 tests |
Developmental and epileptic encephalopathy, 11 | 1 test |
Developmental and epileptic encephalopathy, 2 | 1 test |
Developmental and epileptic encephalopathy, 36 | 1 test |
Developmental and epileptic encephalopathy, 4 | 2 tests |
Developmental and epileptic encephalopathy, 42 | 3 tests |
Developmental and epileptic encephalopathy, 5 | 1 test |
Developmental and epileptic encephalopathy, 52 | 1 test |
Developmental and epileptic encephalopathy, 7 | 4 tests |
Developmental and epileptic encephalopathy, 8 | 3 tests |
Developmental and epileptic encephalopathy, 9 | 1 test |
Diabetes mellitus, permanent neonatal 3 | 2 tests |
Diabetes mellitus, transient neonatal, 2 | 2 tests |
Dihydropteridine reductase deficiency | 3 tests |
Dihydropyrimidinase deficiency | 1 test |
Dilated cardiomyopathy 1A | 1 test |
Dilated cardiomyopathy 1E | 1 test |
Dilated cardiomyopathy 1GG | 1 test |
Dilated cardiomyopathy 1L | 3 tests |
Dilated cardiomyopathy 1X | 1 test |
Dilated cardiomyopathy 3B | 1 test |
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | 1 test |
Distal arthrogryposis type 2B1 | 1 test |
Distal myopathy with anterior tibial onset | 1 test |
Distal myopathy, Tateyama type | 1 test |
Dopa-responsive dystonia due to sepiapterin reductase deficiency | 3 tests |
Duchenne muscular dystrophy | 1 test |
Dysplasminogenemia | 1 test |
Dystonia 12 | 1 test |
Dystonia 16 | 1 test |
Dystonia 24 | 1 test |
Dystonia 25 | 1 test |
Dystonia 5 | 5 tests |
Dystonia 9 | 4 tests |
EAST syndrome | 1 test |
Early myoclonic encephalopathy | 1 test |
Early-onset autosomal dominant Alzheimer disease | 1 test |
Eichsfeld type congenital muscular dystrophy | 1 test |
Elevated circulating creatine kinase concentration | 1 test |
Ellis-van Creveld syndrome | 1 test |
Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 1 test |
Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 1 test |
Encephalopathy due to GLUT1 deficiency | 5 tests |
Encephalopathy, acute, infection-induced, susceptibility to, 4 | 1 test |
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | 1 test |
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | 2 tests |
Epilepsy, early-onset, vitamin B6-dependent | 2 tests |
Epilepsy, familial adult myoclonic, 5 | 1 test |
Epilepsy, familial focal, with variable foci 1 | 1 test |
Epilepsy, idiopathic generalized, susceptibility to, 10 | 2 tests |
Epilepsy, idiopathic generalized, susceptibility to, 11 | 1 test |
Epilepsy, idiopathic generalized, susceptibility to, 12 | 5 tests |
Epilepsy, idiopathic generalized, susceptibility to, 13 | 1 test |
Epilepsy, idiopathic generalized, susceptibility to, 7 | 1 test |
Epilepsy, idiopathic generalized, susceptibility to, 9 | 2 tests |
Epilepsy, progressive myoclonic, 1B | 1 test |
Epiphyseal dysplasia, multiple, 3 | 1 test |
Episodic ataxia type 1 | 1 test |
Episodic ataxia type 2 | 2 tests |
Episodic ataxia type 5 | 1 test |
Episodic ataxia type 6 | 1 test |
Episodic pain syndrome, familial, 2 | 2 tests |
Exercise-induced hyperinsulinism | 1 test |
Fabry disease | 1 test |
Factor VIII deficiency | 1 test |
Factor XIII, A subunit, deficiency of | 1 test |
Factor XIII, b subunit, deficiency of | 1 test |
Familial X-linked hypophosphatemic vitamin D refractory rickets | 2 tests |
Familial amyloid neuropathy | 1 test |
Familial dysautonomia | 1 test |
Familial episodic pain syndrome with predominantly lower limb involvement | 2 tests |
Familial episodic pain syndrome with predominantly upper body involvement | 1 test |
Familial hemophagocytic lymphohistiocytosis | 2 tests |
Familial hyperaldosteronism type III | 1 test |
Familial hypokalemia-hypomagnesemia | 5 tests |
Familial infantile myasthenia | 1 test |
Familial infantile myoclonic epilepsy | 1 test |
Familial partial lipodystrophy, Dunnigan type | 1 test |
Familial porphyria cutanea tarda | 1 test |
Familial steroid-resistant nephrotic syndrome with sensorineural deafness | 2 tests |
Familial visceral amyloidosis, Ostertag type | 1 test |
Fanconi anemia complementation group C | 1 test |
Fanconi renotubular syndrome 1 | 2 tests |
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young | 3 tests |
Fatal infantile hypertonic myofibrillar myopathy | 1 test |
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 | 1 test |
Fetal akinesia deformation sequence 3 | 1 test |
Fibrochondrogenesis 1 | 1 test |
Floating-Harbor syndrome | 1 test |
Focal segmental glomerulosclerosis 9 | 1 test |
Fowler syndrome | 1 test |
Fragile X syndrome | 1 test |
Friedreich ataxia 1 | 3 tests |
Frontotemporal dementia | 4 tests |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | 1 test |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 1 test |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | 1 test |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | 1 test |
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | 1 test |
Fructose-biphosphatase deficiency | 1 test |
Fumarase deficiency | 1 test |
GNE myopathy | 1 test |
GRACILE syndrome | 1 test |
GTP cyclohydrolase I deficiency | 4 tests |
Galactosylceramide beta-galactosidase deficiency | 1 test |
Gamma-aminobutyric acid transaminase deficiency | 1 test |
Gastrointestinal stromal tumor | 2 tests |
Gaucher disease | 1 test |
Gaucher disease perinatal lethal | 1 test |
Gaucher disease type I | 2 tests |
Gaucher disease type II | 1 test |
Gaucher disease type III | 1 test |
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | 1 test |
Generalized epilepsy with febrile seizures plus, type 1 | 1 test |
Generalized epilepsy with febrile seizures plus, type 2 | 2 tests |
Generalized epilepsy with febrile seizures plus, type 7 | 2 tests |
Glanzmann thrombasthenia | 1 test |
Glaucoma, normal tension, susceptibility to | 3 tests |
Glucocorticoid-remediable aldosteronism | 1 test |
Glutamate pyruvate transaminase 2 deficiency | 1 test |
Glutaric aciduria, type 1 | 2 tests |
Glutaryl-CoA oxidase deficiency | 1 test |
Glycogen storage disease IXa1 | 1 test |
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA | 3 tests |
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | 1 test |
Glycogen storage disease type III | 1 test |
Glycogen storage disease type X | 1 test |
Glycogen storage disease, type II | 4 tests |
Glycogen storage disease, type IV | 1 test |
Glycogen storage disease, type V | 1 test |
Glycogen storage disease, type VI | 2 tests |
Glycogen storage disease, type VII | 1 test |
Glycogen storage disorder due to hepatic glycogen synthase deficiency | 1 test |
Gray platelet syndrome | 1 test |
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | 1 test |
Growth delay due to insulin-like growth factor I resistance | 1 test |
Growth delay due to insulin-like growth factor type 1 deficiency | 1 test |
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant | 1 test |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive | 1 test |
Guillain-Barre syndrome, familial | 3 tests |
Hartsfield-Bixler-Demyer syndrome | 1 test |
Hb SS disease | 1 test |
Hearing loss, X-linked 6 | 1 test |
Heart-hand syndrome, Slovenian type | 1 test |
Heimler syndrome 1 | 1 test |
Heimler syndrome 2 | 2 tests |
Hemophagocytic syndrome | 1 test |
Hemophilia | 2 tests |
Hemorrhage, intracerebral, susceptibility to | 1 test |
Hepatic methionine adenosyltransferase deficiency | 1 test |
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 2 tests |
Hereditary cerebral amyloid angiopathy, Icelandic type | 1 test |
Hereditary cryohydrocytosis with reduced stomatin | 3 tests |
Hereditary disease | 7 tests |
Hereditary factor I deficiency disease | 1 test |
Hereditary factor IX deficiency disease | 1 test |
Hereditary leiomyomatosis and renal cell cancer | 1 test |
Hereditary liability to pressure palsies | 3 tests |
Hereditary motor and sensory neuropathy with optic atrophy | 2 tests |
Hereditary sensory and autonomic neuropathy type 7 | 1 test |
Hereditary spastic paraplegia 11 | 1 test |
Hereditary spastic paraplegia 13 | 1 test |
Hereditary spastic paraplegia 3A | 2 tests |
Hereditary spastic paraplegia 4 | 3 tests |
Hereditary spastic paraplegia 7 | 1 test |
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 1 test |
Hereditary thrombophilia | 1 test |
Hereditary von Willebrand disease | 2 tests |
Holoprosencephaly 11 | 1 test |
Holoprosencephaly 2 | 1 test |
Holoprosencephaly 3 | 1 test |
Holoprosencephaly 4 | 1 test |
Holoprosencephaly 5 | 1 test |
Holoprosencephaly 7 | 1 test |
Holoprosencephaly 9 | 2 tests |
Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 2 tests |
Huntington disease | 1 test |
Huntington disease-like 2 | 1 test |
Hurler syndrome | 1 test |
Hutchinson-Gilford syndrome | 1 test |
Hydrocephalus, nonsyndromic, autosomal recessive 2 | 1 test |
Hypercholesterolemia, familial, 1 | 1 test |
Hyperekplexia 1 | 2 tests |
Hyperekplexia 2 | 2 tests |
Hyperekplexia 3 | 2 tests |
Hyperinsulinemic hypoglycemia, familial, 1 | 2 tests |
Hyperinsulinemic hypoglycemia, familial, 4 | 1 test |
Hyperinsulinism due to glucokinase deficiency | 3 tests |
Hyperinsulinism-hyperammonemia syndrome | 1 test |
Hyperkalemic periodic paralysis | 2 tests |
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | 1 test |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 1 test |
Hypertrophic cardiomyopathy 1 | 1 test |
Hypertrophic cardiomyopathy 25 | 1 test |
Hypochondroplasia | 1 test |
Hypogonadotropic hypogonadism 1 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 10 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 11 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 12 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 14 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 15 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 16 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 17 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 18 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 19 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 2 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 20 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 21 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 22 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 3 with or without anosmia | 3 tests |
Hypogonadotropic hypogonadism 4 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 5 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 6 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 8 with or without anosmia | 1 test |
Hypogonadotropic hypogonadism 9 with or without anosmia | 1 test |
Hypokalemic periodic paralysis, type 1 | 2 tests |
Hypokalemic periodic paralysis, type 2 | 2 tests |
Hypomyelinating leukodystrophy 11 | 1 test |
Hypomyelinating leukodystrophy 12 | 1 test |
Hypomyelinating leukodystrophy 4 | 2 tests |
Hypomyelinating leukodystrophy 6 | 2 tests |
Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism | 1 test |
Hypomyelination with brain stem and spinal cord involvement and leg spasticity | 1 test |
Hypophosphatemic rickets, X-linked recessive | 1 test |
Hypophosphatemic rickets, autosomal recessive, 1 | 1 test |
Hypophosphatemic rickets, autosomal recessive, 2 | 1 test |
Hypotonia with lactic acidemia and hyperammonemia | 1 test |
Hypotonia, ataxia, and delayed development syndrome | 1 test |
Idiopathic basal ganglia calcification 1 | 1 test |
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 | 1 test |
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency | 1 test |
Infantile hypophosphatasia | 1 test |
Infantile neuroaxonal dystrophy | 1 test |
Infantile onset spinocerebellar ataxia | 4 tests |
Infantile-onset ascending hereditary spastic paralysis | 1 test |
Inherited bleeding disorder, platelet-type | 2 tests |
Intellectual disability, X-linked syndromic, Turner type | 1 test |
Intellectual disability, X-linked, with panhypopituitarism | 2 tests |
Intellectual disability, autosomal dominant 13 | 1 test |
Intellectual disability, autosomal dominant 3 | 1 test |
Intellectual disability, autosomal dominant 5 | 1 test |
Intellectual disability, autosomal dominant 6 | 1 test |
Intellectual disability, autosomal recessive 1 | 1 test |
Intellectual disability, autosomal recessive 13 | 1 test |
Intellectual disability-hypotonic facies syndrome, X-linked, 1 | 1 test |
Ischemic stroke | 1 test |
Isolated growth hormone deficiency type IB | 2 tests |
Isolated growth hormone deficiency, type 4 | 2 tests |
Joubert syndrome 1 | 1 test |
Joubert syndrome 10 | 1 test |
Joubert syndrome 14 | 1 test |
Joubert syndrome 16 | 1 test |
Joubert syndrome 17 | 1 test |
Joubert syndrome 18 | 1 test |
Joubert syndrome 2 | 1 test |
Joubert syndrome 3 | 1 test |
Joubert syndrome 5 | 1 test |
Joubert syndrome 6 | 1 test |
Joubert syndrome 7 | 1 test |
Joubert syndrome 8 | 1 test |
Joubert syndrome 9 | 1 test |
Joubert syndrome with renal defect | 1 test |
Juvenile myoclonic epilepsy | 1 test |
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke | 1 test |
Juvenile primary lateral sclerosis | 1 test |
Kufor-Rakeb syndrome | 1 test |
Kugelberg-Welander disease | 1 test |
LEOPARD syndrome 1 | 1 test |
LEOPARD syndrome 2 | 1 test |
LEOPARD syndrome 3 | 1 test |
Lafora disease | 1 test |
Laron-type isolated somatotropin defect | 2 tests |
Legius syndrome | 1 test |
Leigh syndrome | 7 tests |
Leri-Weill dyschondrosteosis | 1 test |
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome | 1 test |
Lethal tight skin contracture syndrome | 1 test |
Leucine-induced hypoglycemia | 2 tests |
Leukocyte adhesion deficiency 3 | 1 test |
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | 1 test |
Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | 1 test |
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome | 1 test |
Lewy body dementia | 3 tests |
Liddle syndrome 1 | 1 test |
Liddle syndrome 2 | 1 test |
Linear skin defects with multiple congenital anomalies 1 | 2 tests |
Lipoic acid synthetase deficiency | 2 tests |
Lissencephaly 4 | 1 test |
Lissencephaly 6 with microcephaly | 1 test |
Lissencephaly 7 with cerebellar hypoplasia | 1 test |
Lissencephaly 8 | 1 test |
Lissencephaly due to LIS1 mutation | 1 test |
Lissencephaly due to TUBA1A mutation | 1 test |
Lissencephaly type 1 due to doublecortin gene mutation | 1 test |
Long QT syndrome 13 | 1 test |
Long QT syndrome 3 | 1 test |
Long QT syndrome 9 | 1 test |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 1 test |
Low phospholipid associated cholelithiasis | 1 test |
Lower motor neuron syndrome with late-adult onset | 1 test |
Lysosomal acid lipase deficiency | 1 test |
MPDU1-congenital disorder of glycosylation | 1 test |
MPI-congenital disorder of glycosylation | 1 test |
Macrophage activation syndrome | 1 test |
Macrothrombocytopenia, isolated, 1, autosomal dominant | 1 test |
Major depressive disorder | 1 test |
Malignant hyperthermia, susceptibility to, 1 | 2 tests |
Malignant hyperthermia, susceptibility to, 5 | 2 tests |
Mandibuloacral dysplasia with type A lipodystrophy | 1 test |
Mandibuloacral dysplasia with type B lipodystrophy | 1 test |
Maple syrup urine disease | 1 test |
Maturity-onset diabetes of the young type 1 | 3 tests |
Maturity-onset diabetes of the young type 10 | 1 test |
Maturity-onset diabetes of the young type 11 | 1 test |
Maturity-onset diabetes of the young type 13 | 2 tests |
Maturity-onset diabetes of the young type 14 | 1 test |
Maturity-onset diabetes of the young type 2 | 3 tests |
Maturity-onset diabetes of the young type 3 | 3 tests |
Maturity-onset diabetes of the young type 4 | 1 test |
Maturity-onset diabetes of the young type 6 | 1 test |
Maturity-onset diabetes of the young type 7 | 1 test |
Maturity-onset diabetes of the young type 8 | 1 test |
Maturity-onset diabetes of the young type 9 | 1 test |
Meckel syndrome 13 | 2 tests |
Meckel syndrome, type 1 | 1 test |
Meckel syndrome, type 10 | 1 test |
Meckel syndrome, type 11 | 1 test |
Meckel syndrome, type 2 | 1 test |
Meckel syndrome, type 3 | 1 test |
Meckel syndrome, type 4 | 1 test |
Meckel syndrome, type 5 | 1 test |
Meckel syndrome, type 6 | 1 test |
Meckel syndrome, type 8 | 1 test |
Meckel syndrome, type 9 | 1 test |
Medium-chain acyl-coenzyme A dehydrogenase deficiency | 1 test |
Megaconial type congenital muscular dystrophy | 1 test |
Megalencephaly-capillary malformation-polymicrogyria syndrome | 1 test |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 2 tests |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 1 test |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | 1 test |
Merosin deficient congenital muscular dystrophy | 2 tests |
Metachondromatosis | 1 test |
Metaphyseal chondrodysplasia, Schmid type | 1 test |
Methylmalonate semialdehyde dehydrogenase deficiency | 1 test |
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | 2 tests |
Methylmalonic acidemia due to transcobalamin receptor defect | 1 test |
Methylmalonic aciduria and homocystinuria type cblF | 2 tests |
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2 tests |
Methylmalonic aciduria, cblA type | 2 tests |
Methylmalonic aciduria, cblB type | 1 test |
Microcephalic primordial dwarfism due to RTTN deficiency | 1 test |
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | 1 test |
Migraine, familial hemiplegic, 1 | 3 tests |
Migraine, familial hemiplegic, 2 | 3 tests |
Migraine, familial hemiplegic, 3 | 3 tests |
Mirror movements 4 | 1 test |
Mitochondrial DNA depletion syndrome | 5 tests |
Mitochondrial DNA depletion syndrome 1 | 3 tests |
Mitochondrial DNA depletion syndrome 11 | 1 test |
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | 3 tests |
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive | 3 tests |
Mitochondrial DNA depletion syndrome 13 | 1 test |
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 4 tests |
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | 1 test |
Mitochondrial DNA depletion syndrome 16 (hepatic type) | 1 test |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 2 tests |
Mitochondrial DNA depletion syndrome 4b | 4 tests |
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | 2 tests |
Mitochondrial DNA depletion syndrome 8B (MNGIE type) | 1 test |
Mitochondrial DNA depletion syndrome 8a | 2 tests |
Mitochondrial DNA depletion syndrome 9 | 2 tests |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 3 tests |
Mitochondrial DNA depletion syndrome, myopathic form | 3 tests |
Mitochondrial complex 1 deficiency, nuclear type 10 | 1 test |
Mitochondrial complex 1 deficiency, nuclear type 11 | 1 test |
Mitochondrial complex 1 deficiency, nuclear type 12 | 1 test |
Mitochondrial complex 1 deficiency, nuclear type 13 | 1 test |
Mitochondrial complex 1 deficiency, nuclear type 14 | 1 test |
Mitochondrial complex 1 deficiency, nuclear type 15 | 1 test |
Mitochondrial complex 1 deficiency, nuclear type 16 | 1 test |
Mitochondrial complex 1 deficiency, nuclear type 18 | 1 test |
Mitochondrial complex 1 deficiency, nuclear type 19 | 1 test |
Mitochondrial complex 1 deficiency, nuclear type 2 | 1 test |
Mitochondrial complex 1 deficiency, nuclear type 21 | 1 test |
Mitochondrial complex 1 deficiency, nuclear type 3 | 1 test |
Mitochondrial complex 1 deficiency, nuclear type 4 | 1 test |
Mitochondrial complex 1 deficiency, nuclear type 5 | 1 test |
Mitochondrial complex 1 deficiency, nuclear type 6 | 1 test |
Mitochondrial complex 1 deficiency, nuclear type 7 | 1 test |
Mitochondrial complex 1 deficiency, nuclear type 8 | 1 test |
Mitochondrial complex 1 deficiency, nuclear type 9 | 1 test |
Mitochondrial complex I deficiency, nuclear type 1 | 1 test |
Mitochondrial complex II deficiency, nuclear type 1 | 2 tests |
Mitochondrial complex III deficiency nuclear type 1 | 1 test |
Mitochondrial complex III deficiency nuclear type 3 | 1 test |
Mitochondrial complex III deficiency nuclear type 4 | 1 test |
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 | 1 test |
Mitochondrial complex V (ATP synthase) deficiency nuclear type 3 | 1 test |
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | 1 test |
Mitochondrial disease | 8 tests |
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency | 1 test |
Mitochondrial trifunctional protein deficiency | 2 tests |
Miyoshi muscular dystrophy 1 | 1 test |
Mucolipidosis type IV | 1 test |
Mucopolysaccharidosis type 6 | 1 test |
Mucopolysaccharidosis type 7 | 1 test |
Mucopolysaccharidosis, MPS-I-H/S | 2 tests |
Mucopolysaccharidosis, MPS-I-S | 1 test |
Mucopolysaccharidosis, MPS-II | 2 tests |
Mucopolysaccharidosis, MPS-III-A | 2 tests |
Mucopolysaccharidosis, MPS-III-B | 2 tests |
Mucopolysaccharidosis, MPS-III-C | 1 test |
Mucopolysaccharidosis, MPS-IV-A | 1 test |
Mucopolysaccharidosis, MPS-IV-B | 2 tests |
Multiple acyl-CoA dehydrogenase deficiency | 4 tests |
Multiple system atrophy | 2 tests |
Muscle AMP deaminase deficiency | 1 test |
Muscular dystrophy, limb-girdle, autosomal dominant 4 | 3 tests |
Muscular dystrophy, limb-girdle, autosomal recessive 23 | 2 tests |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | 2 tests |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 2 tests |
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 | 1 test |
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 | 1 test |
Muscular dystrophy-dystroglycanopathy type B5 | 2 tests |
Myasthenic syndrome, congenital, 1B, fast-channel | 1 test |
Myasthenic syndrome, congenital, 22 | 1 test |
Myasthenic syndrome, congenital, 23, presynaptic | 1 test |
Myasthenic syndrome, slow-channel congenital | 1 test |
Myoclonic dystonia 11 | 5 tests |
Myoclonic dystonia 26 | 1 test |
Myoclonic epilepsy, juvenile, susceptibility to, 3 | 1 test |
Myoclonic-astatic epilepsy | 1 test |
Myofibrillar myopathy 2 | 1 test |
Myofibrillar myopathy 3 | 1 test |
Myopathy, centronuclear, 2 | 2 tests |
Myopathy, lactic acidosis, and sideroblastic anemia 1 | 1 test |
Myopathy, proximal, and ophthalmoplegia | 1 test |
Myopathy, tubular aggregate, 2 | 1 test |
Myopia 6 | 1 test |
Myosin storage myopathy | 1 test |
Myotonic dystrophy type 2 | 1 test |
NPHP3-related Meckel-like syndrome | 1 test |
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | 2 tests |
Neonatal intrahepatic cholestasis due to citrin deficiency | 1 test |
Nephronophthisis 14 | 1 test |
Neural tube defects, folate-sensitive | 2 tests |
Neuroblastoma, susceptibility to, 2 | 1 test |
Neurodegeneration with brain iron accumulation 2B | 1 test |
Neurodegeneration with brain iron accumulation 4 | 1 test |
Neurodegeneration with brain iron accumulation 5 | 2 tests |
Neurodegeneration with brain iron accumulation 6 | 1 test |
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities | 1 test |
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | 1 test |
Neuroferritinopathy | 1 test |
Neurofibromatosis-Noonan syndrome | 1 test |
Neuronal ceroid lipofuscinosis 1 | 1 test |
Neuronal ceroid lipofuscinosis 10 | 1 test |
Neuronal ceroid lipofuscinosis 11 | 1 test |
Neuronal ceroid lipofuscinosis 13 | 1 test |
Neuronal ceroid lipofuscinosis 2 | 1 test |
Neuronal ceroid lipofuscinosis 3 | 1 test |
Neuronal ceroid lipofuscinosis 5 | 1 test |
Neuronal ceroid lipofuscinosis 7 | 1 test |
Neuronal ceroid lipofuscinosis 8 | 1 test |
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | 1 test |
Neuronopathy, distal hereditary motor, type 2B | 1 test |
Neuronopathy, distal hereditary motor, type 5A | 2 tests |
Neuropathy, congenital hypomyelinating, 2 | 2 tests |
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy | 1 test |
Neuropathy, hereditary sensory and autonomic, type 1A | 1 test |
Neuropathy, hereditary sensory, type 1D | 2 tests |
Niemann-Pick disease, type A | 2 tests |
Niemann-Pick disease, type B | 1 test |
Non-acquired combined pituitary hormone deficiency with spine abnormalities | 3 tests |
Non-ketotic hyperglycinemia | 4 tests |
Noonan syndrome 1 | 1 test |
Noonan syndrome 11 | 1 test |
Noonan syndrome 12 | 1 test |
Noonan syndrome 2 | 1 test |
Noonan syndrome 3 | 1 test |
Noonan syndrome 4 | 1 test |
Noonan syndrome 5 | 1 test |
Noonan syndrome 6 | 1 test |
Noonan syndrome 7 | 2 tests |
Noonan syndrome 8 | 1 test |
Noonan syndrome-like disorder with loose anagen hair 1 | 1 test |
Noonan syndrome-like disorder with loose anagen hair 2 | 1 test |
Norman-Roberts syndrome | 1 test |
Obsessive-compulsive disorder | 1 test |
Ocular albinism with congenital sensorineural hearing loss | 1 test |
Optic atrophy 5 | 1 test |
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 4 tests |
Ornithine carbamoyltransferase deficiency | 1 test |
Orthostatic hypotension 1 | 3 tests |
Osteochondritis dissecans | 1 test |
Osteogenesis imperfecta type I | 1 test |
Osteogenesis imperfecta type III | 1 test |
Osteogenesis imperfecta with normal sclerae, dominant form | 1 test |
Osteogenesis imperfecta, recessive perinatal lethal | 1 test |
Osteoglophonic dysplasia | 1 test |
Otospondylomegaepiphyseal dysplasia, autosomal dominant | 1 test |
Otospondylomegaepiphyseal dysplasia, autosomal recessive | 1 test |
PCWH syndrome | 1 test |
PGM1-congenital disorder of glycosylation | 3 tests |
PMM2-congenital disorder of glycosylation | 2 tests |
Panhypopituitarism, X-linked | 2 tests |
Paragangliomas 1 | 1 test |
Paragangliomas 3 | 1 test |
Paragangliomas 4 | 1 test |
Paragangliomas 5 | 1 test |
Paramyotonia congenita of Von Eulenburg | 2 tests |
Parkinson disease, late-onset | 3 tests |
Parkinsonism-dystonia, infantile, 2 | 1 test |
Paroxysmal extreme pain disorder | 1 test |
Paroxysmal nonkinesigenic dyskinesia 1 | 2 tests |
Pendred syndrome | 1 test |
Permanent neonatal diabetes mellitus | 1 test |
Permanent neonatal diabetes mellitus 1 | 2 tests |
Peroxisome biogenesis disorder 1A (Zellweger) | 1 test |
Peroxisome biogenesis disorder 1B | 1 test |
Peroxisome biogenesis disorder 2A (Zellweger) | 1 test |
Peroxisome biogenesis disorder 2B | 1 test |
Peroxisome biogenesis disorder 3A (Zellweger) | 1 test |
Peroxisome biogenesis disorder 4A (Zellweger) | 2 tests |
Peroxisome biogenesis disorder 4B | 2 tests |
Peroxisome biogenesis disorder 9B | 1 test |
Peroxisome biogenesis disorder type 3B | 1 test |
Perrault syndrome 1 | 1 test |
Perrault syndrome 2 | 1 test |
Perrault syndrome 3 | 1 test |
Perrault syndrome 4 | 1 test |
Perrault syndrome 5 | 4 tests |
Phenylketonuria | 1 test |
Pheochromocytoma | 2 tests |
Pick disease | 1 test |
Pigmentary pallidal degeneration | 1 test |
Pili torti-deafness syndrome | 1 test |
Pituitary hormone deficiency, combined, 1 | 3 tests |
Pituitary hormone deficiency, combined, 2 | 3 tests |
Pituitary hormone deficiency, combined, 6 | 3 tests |
Plasminogen deficiency, type I | 1 test |
Platelet-type bleeding disorder 10 | 1 test |
Polycystic kidney disease 2 | 3 tests |
Polycystic kidney disease, adult type | 2 tests |
Polydactyly, postaxial, type A8 | 1 test |
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | 1 test |
Pontocerebellar hypoplasia type 6 | 1 test |
Porphobilinogen synthase deficiency | 1 test |
Portal hypertension, noncirrhotic | 1 test |
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome | 1 test |
Potassium-aggravated myotonia | 2 tests |
Prader-Willi syndrome | 1 test |
Preaxial hand polydactyly | 1 test |
Primary coenzyme Q10 deficiency 8 | 2 tests |
Primary erythromelalgia | 1 test |
Progressive demyelinating neuropathy with bilateral striatal necrosis | 2 tests |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 4 tests |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 2 tests |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 4 tests |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 3 tests |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 3 tests |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 6 tests |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 2 tests |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 1 test |
Progressive familial heart block, type 1A | 1 test |
Progressive familial intrahepatic cholestasis type 2 | 1 test |
Progressive familial intrahepatic cholestasis type 3 | 1 test |
Progressive sclerosing poliodystrophy | 3 tests |
Progressive supranuclear palsy-parkinsonism syndrome | 1 test |
Pseudohyperaldosteronism type 2 | 1 test |
Pseudohypoaldosteronism type 2B | 1 test |
Pseudohypoaldosteronism type 2C | 1 test |
Pseudohypoaldosteronism type 2D | 1 test |
Pseudohypoaldosteronism type 2E | 1 test |
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | 2 tests |
Pyridoxal phosphate-responsive seizures | 2 tests |
Pyridoxine-dependent epilepsy | 2 tests |
Pyruvate carboxylase deficiency | 2 tests |
Pyruvate dehydrogenase E1-alpha deficiency | 4 tests |
Pyruvate dehydrogenase E1-beta deficiency | 2 tests |
Pyruvate dehydrogenase E2 deficiency | 2 tests |
Pyruvate dehydrogenase E3 deficiency | 2 tests |
Pyruvate dehydrogenase E3-binding protein deficiency | 1 test |
Pyruvate dehydrogenase phosphatase deficiency | 2 tests |
RFT1-congenital disorder of glycosylation | 1 test |
Radial aplasia-thrombocytopenia syndrome | 1 test |
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 | 1 test |
Renal carnitine transport defect | 2 tests |
Renal cysts and diabetes syndrome | 3 tests |
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | 1 test |
Retinitis pigmentosa 59 | 1 test |
Rett syndrome | 4 tests |
Rippling muscle disease 2 | 1 test |
Roussy-Lévy syndrome | 5 tests |
SHOX-related short stature | 1 test |
SRD5A3-congenital disorder of glycosylation | 1 test |
SSR4-congenital disorder of glycosylation | 1 test |
STT3A-congenital disorder of glycosylation | 1 test |
STT3B-congenital disorder of glycosylation | 1 test |
SUDDEN INFANT DEATH SYNDROME | 1 test |
Salla disease | 2 tests |
Schizophrenia | 1 test |
Secondary hemophagocytic lymphohistiocytosis | 1 test |
Seizures, benign familial neonatal, 1 | 3 tests |
Selective pituitary resistance to thyroid hormone | 1 test |
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 2 tests |
Septo-optic dysplasia sequence | 3 tests |
Severe X-linked mitochondrial encephalomyopathy | 2 tests |
Severe X-linked myotubular myopathy | 3 tests |
Severe intellectual disability-progressive spastic diplegia syndrome | 1 test |
Severe myoclonic epilepsy in infancy | 6 tests |
Severe neonatal-onset encephalopathy with microcephaly | 4 tests |
Short stature due to growth hormone secretagogue receptor deficiency | 2 tests |
Short stature due to partial GHR deficiency | 2 tests |
Short stature due to primary acid-labile subunit deficiency | 1 test |
Short stature with nonspecific skeletal abnormalities | 1 test |
Short stature-optic atrophy-Pelger-HuC+t anomaly syndrome | 2 tests |
Short stature-pituitary and cerebellar defects-small sella turcica syndrome | 3 tests |
Sialic acid storage disease, severe infantile type | 2 tests |
Sialuria | 1 test |
Sick sinus syndrome 1 | 1 test |
Silver-Russell syndrome 3 | 1 test |
Simpson-Golabi-Behmel syndrome type 1 | 1 test |
Somatotroph adenoma | 1 test |
Spastic ataxia 5 | 1 test |
Spinal muscular atrophy, type II | 1 test |
Spinal muscular atrophy, type IV | 1 test |
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome | 1 test |
Spinocerebellar ataxia 7 | 3 tests |
Spinocerebellar ataxia type 1 | 3 tests |
Spinocerebellar ataxia type 10 | 4 tests |
Spinocerebellar ataxia type 12 | 4 tests |
Spinocerebellar ataxia type 17 | 4 tests |
Spinocerebellar ataxia type 2 | 3 tests |
Spinocerebellar ataxia type 28 | 1 test |
Spinocerebellar ataxia type 36 | 4 tests |
Spinocerebellar ataxia type 6 | 3 tests |
Spinocerebellar ataxia type 8 | 4 tests |
Spondyloepimetaphyseal dysplasia, aggrecan type | 1 test |
Spondyloepiphyseal dysplasia congenita | 1 test |
Steinert myotonic dystrophy syndrome | 1 test |
Stickler syndrome type 1 | 1 test |
Stickler syndrome type 2 | 2 tests |
Stickler syndrome, type 4 | 2 tests |
Stickler syndrome, type 5 | 2 tests |
Stickler syndrome, type I, nonsyndromic ocular | 2 tests |
Stormorken syndrome | 1 test |
Succinate-semialdehyde dehydrogenase deficiency | 2 tests |
Succinyl-CoA acetoacetate transferase deficiency | 1 test |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C | 3 tests |
Syndromic X-linked intellectual disability Lubs type | 4 tests |
Tay-Sachs disease | 2 tests |
Thanatophoric dysplasia type 1 | 1 test |
Thrombocythemia 1 | 1 test |
Thrombocytopenia 2 | 1 test |
Thrombocytopenia 4 | 1 test |
Thrombocytopenia 5 | 1 test |
Thrombocytopenia, X-linked, intermittent | 1 test |
Thrombotic microangiopathy | 1 test |
Thrombotic thrombocytopenic purpura | 2 tests |
Thyroid hormone resistance, generalized, autosomal dominant | 1 test |
Thyroid hormone resistance, generalized, autosomal recessive | 1 test |
Thyrotoxic periodic paralysis, susceptibility to, 1 | 1 test |
Tobacco addiction, susceptibility to | 1 test |
Torsion dystonia 2 | 1 test |
Torsion dystonia 4 | 2 tests |
Torsion dystonia 6 | 1 test |
Transcobalamin II deficiency | 2 tests |
Treacher Collins syndrome 1 | 1 test |
Treacher Collins syndrome 2 | 1 test |
Treacher Collins syndrome 3 | 1 test |
Tremor, hereditary essential, 1 | 1 test |
Tuberous sclerosis 1 | 1 test |
Tuberous sclerosis 2 | 1 test |
Type 1 diabetes mellitus 20 | 3 tests |
Type 2 diabetes mellitus | 4 tests |
Tyrosinemia type I | 1 test |
Tyrosinemia type II | 1 test |
Tyrosinemia type III | 1 test |
Usher syndrome type 1 | 1 test |
Usher syndrome type 1C | 1 test |
Usher syndrome type 1D | 1 test |
Usher syndrome type 1F | 1 test |
Usher syndrome type 1J | 1 test |
Usher syndrome type 2A | 1 test |
Usher syndrome type 2C | 1 test |
Usher syndrome type 2D | 1 test |
Usher syndrome type 3 | 1 test |
Usher syndrome type 3B | 1 test |
Vanishing white matter disease | 6 tests |
Variegate porphyria | 1 test |
Ventricular fibrillation, paroxysmal familial, type 1 | 1 test |
Ventriculomegaly-cystic kidney disease | 1 test |
Very long chain acyl-CoA dehydrogenase deficiency | 3 tests |
Vitamin D hydroxylation-deficient rickets, type 1B | 1 test |
Vitamin D-dependent rickets type II with alopecia | 1 test |
Vitamin D-dependent rickets, type 1A | 1 test |
Waardenburg syndrome type 1 | 1 test |
Waardenburg syndrome type 2A | 1 test |
Waardenburg syndrome type 2D | 1 test |
Waardenburg syndrome type 2E | 2 tests |
Waardenburg syndrome type 3 | 1 test |
Waardenburg syndrome type 4A | 1 test |
Waardenburg syndrome type 4B | 1 test |
Waardenburg syndrome type 4C | 2 tests |
Weill-Marchesani syndrome 2, dominant | 1 test |
Werdnig-Hoffmann disease | 1 test |
X-linked Alport syndrome | 1 test |
X-linked Emery-Dreifuss muscular dystrophy | 1 test |
X-linked agammaglobulinemia | 2 tests |
X-linked agammaglobulinemia with growth hormone deficiency | 2 tests |
X-linked dystonia-parkinsonism | 1 test |
X-linked hydrocephalus syndrome | 1 test |
X-linked intellectual disability-psychosis-macroorchidism syndrome | 4 tests |
X-linked lissencephaly with abnormal genitalia | 2 tests |
X-linked sideroblastic anemia with ataxia | 1 test |
alpha Thalassemia | 1 test |
beta Thalassemia | 1 test |