Amish, Mennonite, and Hutterite
Genetic Disorder Database

Amish, Mennonite, and Hutterite Genetic Disorder Database

Order by: OMIM # Disorder

Click on the name of the disorder for more details.

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
  Hypertension       
  Epidermolysis Bullosa Simplex           
  Ichthyosis Microcephaly           
  Renal Hypoplasia           
  Congenital Central Hypoventilation Syndrome           
  Non-syndromic mental retardation           
  Torkelson syndrome    OOM         
  Idiopathic generalized epilepsy           
  Parkinson disease, juvenile, type 2           
#101200  Apert syndrome           
#101600  Pfeiffer syndrome           
#102700  Severe Combined Immunodeficiency, due to adenosine deaminase deficiency    OCM     
#105830  Angelman syndrome           
*113705  Breast Cancer, BRCA1           
#115197  Cardiomyopathy, familial hypertropic, 4         
#115200  Cardiomyopathy, dilated, with AV block           
#116860  Cerebral cavernous malformations 1    OOM         
#119600  Cleidocranial dysplasia           
#123150  Jackson-Weiss syndrome           
%125480  Major Affective Disorder 1  OOM         
#128100  Dystonia 1, torsion, autosomal dominant (DYT1)           
#133540  Cockayne Syndrome, type B  OOM         
#133700  Multiple exostoses, type 1           
#135150  Birt-Hogg-Dube syndrome      OCM       
#135290  Desmoid disease, hereditary           
#137580  Gilles De La Tourette Syndrome           
#139090  Grey platelet syndrome           
%139600  Hairy Elbows           
%140300  Hashimoto Thyroiditis           
#142680  Periodic Fever, Familial    OOM         
#142900  Holt-Oram syndrome           
#143095  Spondyloepiphyseal dysplasia and humerospinal dysostosis           
#143880  Infantile hypercalcemia 1           
#144010  Familial hypercholesterolemia 2           
#145600  Malignant hyperthermia susceptibility           
#154700  Marfan syndrome           
#160900  Myotonic dystrophy-1           
#166200  Osteogenesis Imperfecta, Type 1           
#168600  Parkinson Disease           
#170100  Prolidase deficiency           
#173900  Polycystic kidney disease 1           
#175100  Familial adenomatous polyposis 1 (FAP1)           
#176270  Prader-Willi syndrome  OOM         
*180902  Calcium Release Channel Deficiency Syndrome           
#185800  Proximal symphalangism 1A           
#186000  Synpolydactyly 1             
#187600  Thanatophoric dysplasia, type I  OOM         
#193400  Von Willebrand disease           
#201450  Medium-chain deficiency of Acyl-CoA dehydrogenase  OOM       
#201475  Very long-chain acyl-CoA dehydrogenase deficiency           
%201550  Adducted Thumbs Syndrome           
#201810  Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency           
#201910  Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency    OCM       
#202010  Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency           
#202110  Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency           
#203200  Albinism, oculocutaneous, type II    OOM         
#203400  Corticosterone Methyloxidase Type 1 Deficiency           
#203700  Mitochondrial DNA depletion syndrome 4A            
#203800  Alström Syndrome           
#208900  Ataxia Telangiectasia         
#209900  Bardet-Biedl Syndrome         
#210210  3-Methylcrotonyl-CoA carboxylase 2 deficiency         
#210250  Sitosterolemia         
#210710  Microcephalic osteodysplastic primordial dwarfism           
#210900  Bloom Syndrome           
#211180  Bowen-Conradi Syndrome           
#211600  Cholestasis, progressive familial intrahepatic 1           
#212500  Cataract, Hutterite-type           
#213980  Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (CFSMR)           
#214400  Charcot-Marie-Tooth Disease, Type 4A           
#215100  Rhizomelic Chondrodysplasia Punctata, Type 1 (RCDP1)      OCM     
#216550  Cohen Syndrome           
#216900  Achromatopsia 2    OOM         
#217080  Jalili syndrome           
#218030  Cortisol 11-Beta-ketoreductase deficiency           
#218700  Hypothyroidism and muscular hypertrophy           
#218800  Crigler-Najjar syndrome    OOM         
#219000  Fraser syndrome           
#219700  Cystic fibrosis  OOM  OCM   
#219800  Cystinosis           
#220100  Cystinuria    OOM         
#220290  Deafness, nonsyndromic  OOM     
#220400  Jervell and Lange-Nielsen syndrome           
#221200  Deafness and myopia           
#222300  Wolfram syndrome           
#222600  Diastrophic dysplasia    OOM         
#224050  Cerebellar Hypoplasia, VLDLR-Associated           
#225500  Ellis-van Creveld syndrome           
#226700  Epidermolysis Bullosa Letalis           
#227400  Factor 5 deficiency  OOM         
#227645  Fanconi anemia, complementation group C      OCM     
#229600  Hereditary fructose intolerance    OOM         
#230400  Galactosemia           
#230500  GM1-gangliosidosis, type I           
#231070  Gerodermia Osteodysplastica       OCM       
#231300  Glaucoma 3, primary congenital, A (GLC3A)           
#231670  Glutaric acidemia I           
#231690  Glutaric Aciduria III           
#232300  Glycogen storage disease II    OOM         
#232500  Glycogen storage disease IV    OOM       
#232700  Glycogen storage disease VI    OOM         
#234050  Trichothiodystrophy 4, Nonphotosensitive (TTD4)           
#234200  Pantothenate kinase-associated neurodegeneration           
#235200  Hereditary hemochromatosis           
#236250  Homocystinuria           
236450  Cerebro-osteo-nephrodysplasia           
#236500  Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly    OCM       
#236670  Walker-Warburg Syndrome    OOM         
#236700  McKusick-Kaufman Syndrome           
#239100  Van Buchem Syndrome, Autosomal Dominant           
#241500  Hypophosphatasia      OCM     
#248600  Maple syrup urine disease    OOM     
#248900  Mast Syndrome           
#250250  Cartilage-hair hypoplasia           
#251000  Methylmalonic acidurea due to methylmalonyl-CoA mutase deficiency           
#251270  Microcephaly and chorioretinopathy, autosomal recessive, 1 (MCCRP1)    OOM         
#251300  Galloway-Mowat syndrome           
#252500  Mucolipidosis II alpha/beta  OOM         
#253220  Mucopolysaccharidosis, type VII (MPS7)      OCM       
#253260  Biotinidase deficiency  OOM  OCM     
#253300  Spinal Muscular Atrophy, Type I  OOM         
#253400  Spinal Muscular Atrophy, Type III           
#253600  Muscular dystrophy, limb-girdle, type 2A           
#254110  Muscular Dystrophy, Limb-Girdle, Type 2H           
#255120  Carnitine Palmitoyltransferase I Deficiency           
#256000  Leigh Syndrome  OOM  OCM     
#256100  Nephronophthisis-Juvenile           
#256300  Nephrosis 1, congenital, Finnish type    OOM         
#256450  Hyperinsulinemic hypoglycemia of infancy           
#256550  Sialidosis, type II      OCM       
#256800  Congenital insensitivity to pain with anhidrosis    OOM         
%257800  Oculocerebral Syndrome with Hypopigmentation           
%257970  Oculorenocerebellar syndrome           
259690  Osteopenia and sparse hair           
#259770  Osteoporosis-pseudoglioma syndrome    OOM         
#261000  Gastric Intrinsic Factor (GIF) deficiency    OOM         
#261100  Vitamin B12 Deficiency    OOM         
#261600  Phenylketonuria  OOM         
#262600  Pituitary Dwarfism III           
#263800  Gitelman Syndrome           
#265000  Multiple pterygium syndrome, Escobar variant           
#266200  Pyruvate kinase deficiency of red cells           
#266510  Refsum Disease, Infantile Form           
#266900  Senior-Loken Syndrome 1           
#267500  Reticular dysgenesis           
%267700  Hemophagocytic lymphohistiocytosis, familial, 1           
#267750  Knobloch syndrome 1           
#269840  Severe Combined Immunodeficiency, due to ZAP70 deficiency      OCM     
#270420  Congenital Sodium Diarrhea           
271520  Spondylocostal dysostosis with anal atresia and urogenital anomalies      OCM       
#273800  Glanzmann Thrombasthenia           
#274400  Thyroid Dyshormonogenesis 1           
#274500  Genetic Defect in Thyroid Hormonogenesis 2A           
#275210  Restrictive dermopathy, lethal    OOM  OCM   
#275900  Spastic paraplegia 20, autosomal recessive           
#275900  Troyer syndrome           
#276710  Tyrosinemia Type 3    OOM         
#277400  Methylmalonic aciduria and homocystinuria, cblC type           
#277600  Weill-Marchesani syndrome           
#300068  Androgen Insensitivity Syndrome         
#300071  Night blindness, congenital stationary, type 2A      OCM     
#300600  Åland Island Eye Disease         
#300624  Fragile X Mental Retardation Syndrome    OOM  OCM       
#300997  X-linked mental retardation 106            
#303400  Cleft palate with ankyloglossia           
#306400  Chronic Granulomatous Disease           
+306700  Hemophilia A           
#306900  Hemophilia B           
#309000  Lowe syndrome           
#309500  Renpenning syndrome      OCM       
#309590  Mental retardation, X-linked syndromic, Turner type           
#310200  Duchenne muscular dystrophy  OOM         
#310500  Night blindness, congenital stationary, type 1           
#311250  Ornithine transcarbamylase deficiency           
#312060  Properdin Deficiency           
*590050  MELAS syndrome           
#600155  Hirschsprung disease 2    OOM       
*600185  Breast Cancer, BRCA2         
#600373  CODAS syndrome      OCM       
#600496  Maturity-Onset Diabetes of the Young, Type 3           
#600995  Nephrotic Syndrome, Type 2           
#601005  Timothy Syndrome           
#601287  Muscular dystrophy, limb-girdle, autosomal recessive 4           
#601457  Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Negative, NK Cell-Positive           
#601596  Charcot-Marie-Tooth disease type 4C    OOM         
#601780  Neuronal ceroid lipofuscinosis 6           
#602083  Usher Syndrome, Type 1F           
#602390  Juvenile hemochromatosis, type 2A           
#602471  Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities (SAMS)      OCM       
#602629  Dystonia 6, torsion (DYT6)         
#602849  Muenke syndrome           
*603485  Infantile mitochondrial complex II/III deficiency    OOM         
*603551  Orofacial clefting           
#603553  Hemophagocytic lymphohistiocytosis, familial, 2     OOM       
#603554  Omenn syndrome           
*603623  Failure to thrive, developmental delay, liver dysfunction, and abnormal subcortical white matter           
#604213  Chudley-McCullough Syndrome      OCM       
#604233  Epilepsy, generalized, with febrile seizures plus, type 1    OOM         
#604286  Muscular dystrophy, limb-girdle, type 2E           
#604364  Familial focal epilepsy with variable foci 1    OOM         
#604369  Salla Disease    OOM         
#604387  Nephronophthisis 3           
#605355  Nemaline myopathy 5    OCM       
#605407  Dopa-responsive dystonia           
#605899  Glycine encephalopathy           
#606054  Propionic acidemia         
%606554  Episodic Ataxia, Type 3           
*606565  Autosomal Recessive Cerebral Atrophy (ARCA)           
#606824  Glucose/galactose malabsorption           
#606952  Albinism, oculocutaneous, type 1B           
#607155  Muscular Dystrophy, Limb-Girdle, Type 2I           
#607196  Microcephaly, Amish type           
#607364  Bartter Syndrome, Type 3           
*607585  Ataxia-telangiectasia - Variant     OOM       
#607748  Hypercholanemia, familial           
#608393  Primary microcephaly 6           
#608644  Primary Ciliary Dyskinesia, Type 3         
#608800  Sudden infant death with dysgenesis of the testes syndrome           
#608804  Pelizaeus-Merzbacher-like syndrome           
#608804  Hypomyelinating leukodystrophy 2           
#608971  Severe Combined Immunodeficiency, autosomal recessive, T cell-negative, B cell/NK cell-positive    OOM         
#609033  Posterior column ataxia with retinitis pigmentosa    OOM         
#609049  Pierson syndrome    OOM         
#609056  GM3 synthase deficiency           
#609310  Hereditary non-polyposis colon cancer      OCM       
#609549  Nanophthalmos 2         
#609560  Mitochondrial DNA depletion syndrome, Hepatocerebral form      OCM       
#610042  Cortical Dysplasia-Focal Epilepsy Syndrome           
#610198  3-Methylglutaconic Aciduria, Type V           
#610377  Mevalonate kinase deficiency    OOM       
#610743  Spinocerebellar ataxia, autosomal recessive 8           
#610798  Immunodeficiency due to defect in MAPBP-interacting protein           
#610915  Osteogenesis imperfecta, type VIII    OOM         
#611087  Polyhydramnios, megalencephaly and symptomatic epilepsy    OOM         
*611176  Psychomotor delay and intractable seizures    OOM         
#611451  Autosomal recessive deafness 63    OOM         
#611726  Progressive myoclonus epilepsy with ataxia      OCM       
#612416  Factor 11 deficiency    OOM         
#612576  Split-hand/foot malformation with long bone deficiency 3           
#612651  Endocrine-cerebro-osteodysplasia (ECO)           
#612952  Aicardi-Goutieres syndrome 5           
#613135  Parkinsonism-dystonia, infantile (PKDYS)    OOM         
*613175  Non-syndromic mental retardation           
#613329  Plasminogen activator inhibitor-1 deficiency           
#613385  Autoimmune disease, multisystem, with facial dysmorphism (ADMFD)           
#613490  Alpha-1 antitrypsin deficiency  OOM         
#613672  Spastic Ataxia 4, mtPAP deficiency             
#613680  Beaulieu-Boycott-Innes syndrome           
#613688  Long QT syndrome 2           
#614424  Joubert syndrome related disorder (JSRD)           
#614498  Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL)           
#614499  Mental retardation, autosomal recessive 34 (MRT34)    OOM         
#614501  Psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED)           
#614504  HARS Deficiency           
#614742  Telomere-related pulmonary fibrosis and/or bone marrow failure 1    OOM         
#614872  Zellweger syndrome           
#614874  Ciliary dyskinesia, primary, 18    OOM         
#614895  Charcot-Marie-Tooth disease, type 4F    OOM         
#614937  Familial Cortical Myoclonus           
#615010  Aicardi-Goutieres syndrome 6    OOM         
#615030  Spastic paraplegia 56    OOM         
#615458  Microcornea with myopic chorioretinal atrophy and telecanthus           
#615516  Non-syndromic intellectual disability, autism, and gait disturbance  OOM         
#615617  Severe Combined Immunodeficiency, due to CD3-delta deficiency      OCM     
#615637  Mental retardation, autosomal recessive 41 (MRT41)           
#615879  Tatton-Brown-Rahman syndrome           
#615942  Mental retardation, autosomal recessive 44    OOM         
#615960  Poretti-Boltshauser syndrome           
#615999  Familial dysalbuminemic hyperthyroxinemia           
#616069  Inflammatory skin and bowel disease, neonatal, 2    OOM         
#616326  Congenital Myasthenic Syndrome    OOM         
#616361  Parkinson disease    OOM         
#616682  Seizures, scoliosis, and macrocephaly syndrome (SSMS)    OOM         
#616878  Metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmias, neurodegeneration    OOM         
#617118  Familial focal epilepsy with variable foci 3    OOM         
#617270  Mental retardation, autosomal recessive 58           
#617936  Succinylcholine sensitivity           
#618268  Trichohepatoneurodevelopmental syndrome           


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