OMIM # |
Disorder |
Seen In [?
A - Amish
OOM - Old Order Mennonite
OCM - Old Colony Mennonite
M - Unknown / Other Mennonite
H - Hutterite ] |
LHSC
Testing is available at LHSC |
#210210 |
3-Methylcrotonyl-CoA carboxylase 2 deficiency |
A |
|
|
M |
|
|
#610198 |
3-Methylglutaconic Aciduria, Type V |
|
|
|
|
H |
|
#300600 |
Åland Island Eye Disease |
A |
|
|
M |
|
|
#216900 |
Achromatopsia 2 |
|
OOM |
|
|
|
|
%201550 |
Adducted Thumbs Syndrome |
A |
|
|
|
|
|
#202110 |
Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency |
|
|
|
M |
|
|
#201910 |
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency |
A |
|
OCM |
|
|
|
#201810 |
Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency |
A |
|
|
|
|
|
#202010 |
Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency |
A |
|
|
|
|
|
#612952 |
Aicardi-Goutieres syndrome 5 |
A |
|
|
|
|
|
#615010 |
Aicardi-Goutieres syndrome 6 |
|
OOM |
|
|
|
|
#606952 |
Albinism, oculocutaneous, type 1B |
A |
|
|
|
|
|
#203200 |
Albinism, oculocutaneous, type II |
|
OOM |
|
|
|
|
#613490 |
Alpha-1 antitrypsin deficiency |
A |
OOM |
|
|
|
|
#203800 |
Alström Syndrome |
|
|
|
M |
|
|
#300068 |
Androgen Insensitivity Syndrome |
A |
|
|
|
H |
|
#105830 |
Angelman syndrome |
A |
|
|
|
|
|
#101200 |
Apert syndrome |
A |
|
|
|
|
|
#208900 |
Ataxia Telangiectasia |
A |
|
|
M |
|
|
*607585 |
Ataxia-telangiectasia - Variant |
|
OOM |
|
M |
|
|
#613385 |
Autoimmune disease, multisystem, with facial dysmorphism (ADMFD) |
A |
|
|
|
|
|
*606565 |
Autosomal Recessive Cerebral Atrophy (ARCA) |
A |
|
|
|
|
|
#611451 |
Autosomal recessive deafness 63 |
|
OOM |
|
|
|
|
#209900 |
Bardet-Biedl Syndrome |
A |
|
|
|
H |
|
#607364 |
Bartter Syndrome, Type 3 |
A |
|
|
|
|
|
#613680 |
Beaulieu-Boycott-Innes syndrome |
|
|
|
|
H |
|
#253260 |
Biotinidase deficiency |
A |
OOM |
OCM |
M |
|
|
#135150 |
Birt-Hogg-Dube syndrome |
|
|
OCM |
|
|
|
#210900 |
Bloom Syndrome |
|
|
|
M |
|
|
#211180 |
Bowen-Conradi Syndrome |
|
|
|
|
H |
|
*113705 |
Breast Cancer, BRCA1 |
|
|
|
|
H |
|
*600185 |
Breast Cancer, BRCA2 |
A |
|
|
|
H |
|
#115200 |
Cardiomyopathy, dilated, with AV block |
A |
|
|
|
|
|
#115197 |
Cardiomyopathy, familial hypertropic, 4 |
A |
|
|
M |
|
|
#255120 |
Carnitine Palmitoyltransferase I Deficiency |
|
|
|
|
H |
|
#250250 |
Cartilage-hair hypoplasia |
A |
|
|
|
|
|
#212500 |
Cataract, Hutterite-type |
|
|
|
|
H |
|
#224050 |
Cerebellar Hypoplasia, VLDLR-Associated |
|
|
|
|
H |
|
#116860 |
Cerebral cavernous malformations 1 |
|
OOM |
|
|
|
|
236450 |
Cerebro-osteo-nephrodysplasia |
|
|
|
|
H |
|
#601596 |
Charcot-Marie-Tooth disease type 4C |
|
OOM |
|
|
|
|
#214400 |
Charcot-Marie-Tooth Disease, Type 4A |
A |
|
|
|
|
|
#614895 |
Charcot-Marie-Tooth disease, type 4F |
|
OOM |
|
|
|
|
#211600 |
Cholestasis, progressive familial intrahepatic 1 |
A |
|
|
|
|
|
#306400 |
Chronic Granulomatous Disease |
A |
|
|
|
|
|
#604213 |
Chudley-McCullough Syndrome |
|
|
OCM |
|
|
|
#614874 |
Ciliary dyskinesia, primary, 18 |
|
OOM |
|
|
|
|
#303400 |
Cleft palate with ankyloglossia |
|
|
|
M |
|
|
#119600 |
Cleidocranial dysplasia |
|
|
|
M |
|
|
#133540 |
Cockayne Syndrome, type B |
A |
OOM |
|
|
|
|
#600373 |
CODAS syndrome |
|
|
OCM |
|
|
|
#216550 |
Cohen Syndrome |
A |
|
|
|
|
|
|
Congenital Central Hypoventilation Syndrome |
A |
|
|
|
|
|
#256800 |
Congenital insensitivity to pain with anhidrosis |
|
OOM |
|
|
|
|
#616326 |
Congenital Myasthenic Syndrome |
|
OOM |
|
|
|
|
#270420 |
Congenital Sodium Diarrhea |
A |
|
|
|
|
|
#610042 |
Cortical Dysplasia-Focal Epilepsy Syndrome |
A |
|
|
|
|
|
#203400 |
Corticosterone Methyloxidase Type 1 Deficiency |
A |
|
|
|
|
|
#218030 |
Cortisol 11-Beta-ketoreductase deficiency |
|
|
|
M |
|
|
#213980 |
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (CFSMR) |
A |
|
|
|
|
|
#218800 |
Crigler-Najjar syndrome |
|
OOM |
|
|
|
|
#219700 |
Cystic fibrosis |
A |
OOM |
OCM |
M |
H |
|
#219800 |
Cystinosis |
A |
|
|
|
|
|
#220100 |
Cystinuria |
|
OOM |
|
|
|
|
#221200 |
Deafness and myopia |
A |
|
|
|
|
|
#220290 |
Deafness, nonsyndromic |
A |
OOM |
|
M |
|
|
#135290 |
Desmoid disease, hereditary |
A |
|
|
|
|
|
#222600 |
Diastrophic dysplasia |
|
OOM |
|
|
|
|
#605407 |
Dopa-responsive dystonia |
|
|
|
|
H |
|
#310200 |
Duchenne muscular dystrophy |
A |
OOM |
|
|
|
|
#128100 |
Dystonia 1, torsion, autosomal dominant (DYT1) |
|
|
|
M |
|
|
#602629 |
Dystonia 6, torsion (DYT6) |
A |
|
|
M |
|
|
#225500 |
Ellis-van Creveld syndrome |
A |
|
|
|
|
|
#612651 |
Endocrine-cerebro-osteodysplasia (ECO) |
A |
|
|
|
|
|
#226700 |
Epidermolysis Bullosa Letalis |
A |
|
|
|
|
|
|
Epidermolysis Bullosa Simplex |
A |
|
|
|
|
|
#604233 |
Epilepsy, generalized, with febrile seizures plus, type 1 |
|
OOM |
|
|
|
|
%606554 |
Episodic Ataxia, Type 3 |
|
|
|
M |
|
|
#612416 |
Factor 11 deficiency |
|
OOM |
|
|
|
|
#227400 |
Factor 5 deficiency |
A |
OOM |
|
|
|
|
*603623 |
Failure to thrive, developmental delay, liver dysfunction, and abnormal subcortical white matter |
A |
|
|
|
|
|
#175100 |
Familial adenomatous polyposis 1 (FAP1) |
|
|
|
M |
|
|
#614937 |
Familial Cortical Myoclonus |
|
|
|
M |
|
|
#615999 |
Familial dysalbuminemic hyperthyroxinemia |
A |
|
|
|
|
|
#604364 |
Familial focal epilepsy with variable foci 1 |
|
OOM |
|
|
|
|
#617118 |
Familial focal epilepsy with variable foci 3 |
|
OOM |
|
|
|
|
#144010 |
Familial hypercholesterolemia 2 |
A |
|
|
|
|
|
#227645 |
Fanconi anemia, complementation group C |
|
|
OCM |
M |
|
|
#300624 |
Fragile X Mental Retardation Syndrome |
|
OOM |
OCM |
|
|
|
#219000 |
Fraser syndrome |
A |
|
|
|
|
|
#230400 |
Galactosemia |
A |
|
|
|
|
|
#251300 |
Galloway-Mowat syndrome |
A |
|
|
|
|
|
#261000 |
Gastric Intrinsic Factor (GIF) deficiency |
|
OOM |
|
|
|
|
#274500 |
Genetic Defect in Thyroid Hormonogenesis 2A |
A |
|
|
|
|
|
#231070 |
Gerodermia Osteodysplastica |
|
|
OCM |
|
|
|
#137580 |
Gilles De La Tourette Syndrome |
|
|
|
M |
|
|
#263800 |
Gitelman Syndrome |
A |
|
|
|
|
|
#273800 |
Glanzmann Thrombasthenia |
|
|
|
M |
|
|
#231300 |
Glaucoma 3, primary congenital, A (GLC3A) |
A |
|
|
|
|
|
#606824 |
Glucose/galactose malabsorption |
A |
|
|
|
|
|
#231670 |
Glutaric acidemia I |
A |
|
|
|
|
|
#231690 |
Glutaric Aciduria III |
A |
|
|
|
|
|
#605899 |
Glycine encephalopathy |
A |
|
|
|
|
|
#232300 |
Glycogen storage disease II |
|
OOM |
|
|
|
|
#232500 |
Glycogen storage disease IV |
|
OOM |
|
M |
|
|
#232700 |
Glycogen storage disease VI |
|
OOM |
|
|
|
|
#230500 |
GM1-gangliosidosis, type I |
A |
|
|
|
|
|
#609056 |
GM3 synthase deficiency |
A |
|
|
|
|
|
#139090 |
Grey platelet syndrome |
|
|
|
M |
|
|
%139600 |
Hairy Elbows |
A |
|
|
|
|
|
#614504 |
HARS Deficiency |
A |
|
|
|
|
|
%140300 |
Hashimoto Thyroiditis |
A |
|
|
|
|
|
%267700 |
Hemophagocytic lymphohistiocytosis, familial, 1 |
|
|
|
M |
|
|
#603553 |
Hemophagocytic lymphohistiocytosis, familial, 2 |
|
OOM |
|
M |
|
|
+306700 |
Hemophilia A |
|
|
|
|
H |
|
#306900 |
Hemophilia B |
A |
|
|
|
|
|
#229600 |
Hereditary fructose intolerance |
|
OOM |
|
|
|
|
#235200 |
Hereditary hemochromatosis |
A |
|
|
|
|
|
#609310 |
Hereditary non-polyposis colon cancer |
|
|
OCM |
|
|
|
#600155 |
Hirschsprung disease 2 |
|
OOM |
|
M |
|
|
#142900 |
Holt-Oram syndrome |
A |
|
|
|
|
|
#236250 |
Homocystinuria |
A |
|
|
|
|
|
#607748 |
Hypercholanemia, familial |
A |
|
|
|
|
|
#256450 |
Hyperinsulinemic hypoglycemia of infancy |
A |
|
|
|
|
|
|
Hypertension |
A |
|
|
M |
H |
|
#608804 |
Hypomyelinating leukodystrophy 2 |
A |
|
|
|
|
|
#241500 |
Hypophosphatasia |
|
|
OCM |
|
H |
|
#218700 |
Hypothyroidism and muscular hypertrophy |
A |
|
|
|
|
|
|
Ichthyosis Microcephaly |
A |
|
|
|
|
|
|
Idiopathic generalized epilepsy |
A |
|
|
|
|
|
#610798 |
Immunodeficiency due to defect in MAPBP-interacting protein |
|
|
|
M |
|
|
#143880 |
Infantile hypercalcemia 1 |
A |
|
|
|
|
|
*603485 |
Infantile mitochondrial complex II/III deficiency |
|
OOM |
|
|
|
|
#616069 |
Inflammatory skin and bowel disease, neonatal, 2 |
|
OOM |
|
|
|
|
#123150 |
Jackson-Weiss syndrome |
A |
|
|
|
|
|
#217080 |
Jalili syndrome |
A |
|
|
|
|
|
#220400 |
Jervell and Lange-Nielsen syndrome |
A |
|
|
|
|
|
#614424 |
Joubert syndrome related disorder (JSRD) |
|
|
|
|
H |
|
#602390 |
Juvenile hemochromatosis, type 2A |
|
|
|
M |
|
|
#267750 |
Knobloch syndrome 1 |
A |
|
|
|
|
|
#256000 |
Leigh Syndrome |
A |
OOM |
OCM |
|
H |
|
#613688 |
Long QT syndrome 2 |
A |
|
|
|
|
|
#309000 |
Lowe syndrome |
|
|
|
M |
|
|
%125480 |
Major Affective Disorder 1 |
A |
OOM |
|
|
|
|
#145600 |
Malignant hyperthermia susceptibility |
|
|
|
M |
|
|
#248600 |
Maple syrup urine disease |
|
OOM |
|
M |
H |
|
#154700 |
Marfan syndrome |
A |
|
|
|
|
|
#248900 |
Mast Syndrome |
A |
|
|
|
|
|
#600496 |
Maturity-Onset Diabetes of the Young, Type 3 |
|
|
|
|
H |
|
#236700 |
McKusick-Kaufman Syndrome |
A |
|
|
|
|
|
#201450 |
Medium-chain deficiency of Acyl-CoA dehydrogenase |
A |
OOM |
|
M |
|
|
*590050 |
MELAS syndrome |
A |
|
|
|
|
|
#614499 |
Mental retardation, autosomal recessive 34 (MRT34) |
|
OOM |
|
|
|
|
#615637 |
Mental retardation, autosomal recessive 41 (MRT41) |
A |
|
|
|
|
|
#615942 |
Mental retardation, autosomal recessive 44 |
|
OOM |
|
|
|
|
#617270 |
Mental retardation, autosomal recessive 58 |
A |
|
|
|
|
|
#309590 |
Mental retardation, X-linked syndromic, Turner type |
A |
|
|
|
|
|
#616878 |
Metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmias, neurodegeneration |
|
OOM |
|
|
|
|
#251000 |
Methylmalonic acidurea due to methylmalonyl-CoA mutase deficiency |
|
|
|
|
H |
|
#277400 |
Methylmalonic aciduria and homocystinuria, cblC type |
A |
|
|
|
|
|
#610377 |
Mevalonate kinase deficiency |
|
OOM |
|
M |
|
|
#210710 |
Microcephalic osteodysplastic primordial dwarfism |
A |
|
|
|
|
|
#251270 |
Microcephaly and chorioretinopathy, autosomal recessive, 1 (MCCRP1) |
|
OOM |
|
|
|
|
#607196 |
Microcephaly, Amish type |
A |
|
|
|
|
|
#615458 |
Microcornea with myopic chorioretinal atrophy and telecanthus |
A |
|
|
|
|
|
#203700 |
Mitochondrial DNA depletion syndrome 4A |
A |
|
|
|
|
|
#609560 |
Mitochondrial DNA depletion syndrome, Hepatocerebral form |
|
|
OCM |
|
|
|
#252500 |
Mucolipidosis II alpha/beta |
A |
OOM |
|
|
|
|
#253220 |
Mucopolysaccharidosis, type VII (MPS7) |
|
|
OCM |
|
|
|
#602849 |
Muenke syndrome |
A |
|
|
|
|
|
#236500 |
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly |
A |
|
OCM |
|
|
|
#133700 |
Multiple exostoses, type 1 |
A |
|
|
|
|
|
#265000 |
Multiple pterygium syndrome, Escobar variant |
A |
|
|
|
|
|
#601287 |
Muscular dystrophy, limb-girdle, autosomal recessive 4 |
A |
|
|
|
|
|
#601287 |
Muscular dystrophy, limb-girdle, autosomal recessive 4 |
A |
|
|
|
|
|
#253600 |
Muscular dystrophy, limb-girdle, type 2A |
A |
|
|
|
|
|
#604286 |
Muscular dystrophy, limb-girdle, type 2E |
A |
|
|
|
|
|
#254110 |
Muscular Dystrophy, Limb-Girdle, Type 2H |
|
|
|
|
H |
|
#607155 |
Muscular Dystrophy, Limb-Girdle, Type 2I |
|
|
|
|
H |
|
#160900 |
Myotonic dystrophy-1 |
A |
|
|
|
|
|
#609549 |
Nanophthalmos 2 |
A |
|
|
M |
|
|
#605355 |
Nemaline myopathy 5 |
A |
|
OCM |
|
|
|
#604387 |
Nephronophthisis 3 |
A |
|
|
|
|
|
#256100 |
Nephronophthisis-Juvenile |
|
|
|
|
H |
|
#256300 |
Nephrosis 1, congenital, Finnish type |
|
OOM |
|
|
|
|
#600995 |
Nephrotic Syndrome, Type 2 |
A |
|
|
|
|
|
#601780 |
Neuronal ceroid lipofuscinosis 6 |
A |
|
|
|
|
|
#310500 |
Night blindness, congenital stationary, type 1 |
|
|
|
M |
|
|
#300071 |
Night blindness, congenital stationary, type 2A |
|
|
OCM |
M |
|
|
#615516 |
Non-syndromic intellectual disability, autism, and gait disturbance |
A |
OOM |
|
|
|
|
|
Non-syndromic mental retardation |
A |
|
|
|
|
|
*613175 |
Non-syndromic mental retardation |
A |
|
|
|
|
|
%257800 |
Oculocerebral Syndrome with Hypopigmentation |
A |
|
|
|
|
|
%257970 |
Oculorenocerebellar syndrome |
|
|
|
M |
|
|
#603554 |
Omenn syndrome |
A |
|
|
|
|
|
#311250 |
Ornithine transcarbamylase deficiency |
A |
|
|
|
|
|
*603551 |
Orofacial clefting |
A |
|
|
|
|
|
#166200 |
Osteogenesis Imperfecta, Type 1 |
A |
|
|
|
|
|
#610915 |
Osteogenesis imperfecta, type VIII |
|
OOM |
|
|
|
|
259690 |
Osteopenia and sparse hair |
|
|
|
M |
|
|
#259770 |
Osteoporosis-pseudoglioma syndrome |
|
OOM |
|
|
|
|
#234200 |
Pantothenate kinase-associated neurodegeneration |
A |
|
|
|
|
|
#168600 |
Parkinson Disease |
A |
|
|
|
|
|
#616361 |
Parkinson disease |
|
OOM |
|
|
|
|
|
Parkinson disease, juvenile, type 2 |
A |
|
|
|
|
|
#613135 |
Parkinsonism-dystonia, infantile (PKDYS) |
|
OOM |
|
|
|
|
#608804 |
Pelizaeus-Merzbacher-like syndrome |
A |
|
|
|
|
|
#142680 |
Periodic Fever, Familial |
|
OOM |
|
|
|
|
#101600 |
Pfeiffer syndrome |
A |
|
|
|
|
|
#261600 |
Phenylketonuria |
A |
OOM |
|
|
|
|
#609049 |
Pierson syndrome |
|
OOM |
|
|
|
|
#262600 |
Pituitary Dwarfism III |
|
|
|
|
H |
|
#613329 |
Plasminogen activator inhibitor-1 deficiency |
A |
|
|
|
|
|
#173900 |
Polycystic kidney disease 1 |
A |
|
|
|
|
|
#611087 |
Polyhydramnios, megalencephaly and symptomatic epilepsy |
|
OOM |
|
|
|
|
#611087 |
Polyhydramnios, megalencephaly and symptomatic epilepsy |
|
OOM |
|
|
|
|
#615960 |
Poretti-Boltshauser syndrome |
A |
|
|
|
|
|
#609033 |
Posterior column ataxia with retinitis pigmentosa |
|
OOM |
|
|
|
|
#176270 |
Prader-Willi syndrome |
A |
OOM |
|
|
|
|
#608644 |
Primary Ciliary Dyskinesia, Type 3 |
A |
|
|
M |
|
|
#608393 |
Primary microcephaly 6 |
A |
|
|
|
|
|
#611726 |
Progressive myoclonus epilepsy with ataxia |
|
|
OCM |
|
|
|
#170100 |
Prolidase deficiency |
A |
|
|
|
|
|
#312060 |
Properdin Deficiency |
|
|
|
M |
|
|
#606054 |
Propionic acidemia |
A |
|
|
M |
|
|
#185800 |
Proximal symphalangism 1A |
A |
|
|
|
|
|
*611176 |
Psychomotor delay and intractable seizures |
|
OOM |
|
|
|
|
#614501 |
Psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED) |
A |
|
|
|
|
|
#266200 |
Pyruvate kinase deficiency of red cells |
A |
|
|
|
|
|
#266510 |
Refsum Disease, Infantile Form |
A |
|
|
|
|
|
|
Renal Hypoplasia |
A |
|
|
|
|
|
#309500 |
Renpenning syndrome |
|
|
OCM |
|
|
|
#275210 |
Restrictive dermopathy, lethal |
|
OOM |
OCM |
M |
H |
|
#267500 |
Reticular dysgenesis |
A |
|
|
|
|
|
#215100 |
Rhizomelic Chondrodysplasia Punctata, Type 1 (RCDP1) |
|
|
OCM |
M |
|
|
#614498 |
Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) |
A |
|
|
|
|
|
#604369 |
Salla Disease |
|
OOM |
|
|
|
|
#616682 |
Seizures, scoliosis, and macrocephaly syndrome (SSMS) |
|
OOM |
|
|
|
|
#266900 |
Senior-Loken Syndrome 1 |
A |
|
|
|
|
|
#608971 |
Severe Combined Immunodeficiency, autosomal recessive, T cell-negative, B cell/NK cell-positive |
|
OOM |
|
|
|
|
#102700 |
Severe Combined Immunodeficiency, due to adenosine deaminase deficiency |
A |
|
OCM |
M |
|
|
#615617 |
Severe Combined Immunodeficiency, due to CD3-delta deficiency |
|
|
OCM |
M |
|
|
#269840 |
Severe Combined Immunodeficiency, due to ZAP70 deficiency |
|
|
OCM |
M |
|
|
#601457 |
Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Negative, NK Cell-Positive |
A |
|
|
|
|
|
#602471 |
Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities (SAMS) |
|
|
OCM |
|
|
|
#256550 |
Sialidosis, type II |
|
|
OCM |
|
|
|
#210250 |
Sitosterolemia |
A |
|
|
|
H |
|
#613672 |
Spastic Ataxia 4, mtPAP deficiency |
A |
|
|
|
|
|
#275900 |
Spastic paraplegia 20, autosomal recessive |
A |
|
|
|
|
|
#615030 |
Spastic paraplegia 56 |
|
OOM |
|
|
|
|
#253300 |
Spinal Muscular Atrophy, Type I |
A |
OOM |
|
|
|
|
#253400 |
Spinal Muscular Atrophy, Type III |
|
|
|
|
H |
|
#610743 |
Spinocerebellar ataxia, autosomal recessive 8 |
A |
|
|
|
|
|
#612576 |
Split-hand/foot malformation with long bone deficiency 3 |
|
|
|
M |
|
|
271520 |
Spondylocostal dysostosis with anal atresia and urogenital anomalies |
|
|
OCM |
|
|
|
#143095 |
Spondyloepiphyseal dysplasia and humerospinal dysostosis |
A |
|
|
|
|
|
#617936 |
Succinylcholine sensitivity |
|
|
|
|
H |
|
#608800 |
Sudden infant death with dysgenesis of the testes syndrome |
A |
|
|
|
|
|
#186000 |
Synpolydactyly 1 |
A |
|
|
|
|
|
#615879 |
Tatton-Brown-Rahman syndrome |
A |
|
|
|
|
|
#614742 |
Telomere-related pulmonary fibrosis and/or bone marrow failure-1 |
|
OOM |
|
|
|
|
#187600 |
Thanatophoric dysplasia, type I |
A |
OOM |
|
|
|
|
#274400 |
Thyroid Dyshormonogenesis 1 |
|
|
|
|
H |
|
#601005 |
Timothy Syndrome |
A |
|
|
|
|
|
|
Torkelson syndrome |
|
OOM |
|
|
|
|
#618268 |
Trichohepatoneurodevelopmental syndrome |
A |
|
|
|
|
|
#234050 |
Trichothiodystrophy 4, Nonphotosensitive (TTD4) |
A |
|
|
|
|
|
#275900 |
Troyer syndrome |
A |
|
|
|
|
|
#276710 |
Tyrosinemia Type 3 |
|
OOM |
|
|
|
|
#602083 |
Usher Syndrome, Type 1F |
|
|
|
|
H |
|
#239100 |
Van Buchem Syndrome, Autosomal Dominant |
|
|
|
|
H |
|
#201475 |
Very long-chain acyl-CoA dehydrogenase deficiency |
A |
|
|
|
|
|
#261100 |
Vitamin B12 Deficiency |
|
OOM |
|
|
|
|
#193400 |
Von Willebrand disease |
A |
|
|
|
|
|
#236670 |
Walker-Warburg Syndrome |
|
OOM |
|
|
|
|
#277600 |
Weill-Marchesani syndrome |
A |
|
|
|
|
|
#222300 |
Wolfram syndrome |
A |
|
|
|
|
|
#300997 |
X-linked mental retardation 106 |
A |
|
|
|
|
|
#614872 |
Zellweger syndrome |
A |
|
|
|
|
|