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
#210210  3-Methylcrotonyl-CoA carboxylase 2 deficiency         
#610198  3-Methylglutaconic Aciduria, Type V           
#300600  Åland Island Eye Disease         
%201550  Adducted Thumbs Syndrome           
#202110  Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency           
#201910  Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency    OCM       
#201810  Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency           
#202010  Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency           
#612952  Aicardi-Goutieres syndrome 5           
#606952  Albinism, oculocutaneous, type 1B           
*107400  Alpha-1 antitrypsin deficiency  OOM         
#203800  Alström Syndrome           
#609056  Amish infantile epilepsy syndrome           
#300068  Androgen Insensitivity Syndrome           
#208900  Ataxia Telangiectasia         
#607585  Ataxia-telangiectasia - Variant            
#613385  Autoimmune disease, multisystem, with facial dysmorphism (ADMFD)           
*606565  Autosomal Recessive Cerebral Atrophy (ARCA)           
#209900  Bardet-Biedl Syndrome         
#607364  Bartter Syndrome, Type 3           
#613680  Beaulieu-Boycott-Innes syndrome           
#253260  Biotinidase deficiency  OOM  OCM     
#135150  Birt-Hogg-Dube syndrome      OCM       
#210900  Bloom Syndrome           
#211180  Bowen-Conradi Syndrome           
*113705  Breast Cancer, BRCA1           
*600185  Breast Cancer, BRCA2           
#115200  Cardiomyopathy, dilated, with AV block           
#255120  Carnitine Palmitoyltransferase I Deficiency           
#250250  Cartilage-hair hypoplasia           
%212500  Cataract, Congenital or Juvenile           
#224050  Cerebellar Hypoplasia, VLDLR-Associated           
236450  Cerebro-osteo-nephrodysplasia           
#214400  Charcot-Marie-Tooth Disease, Type 4A           
#211600  Cholestasis, progressive familial intrahepatic 1           
#306400  Chronic Granulomatous Disease           
#604213  Chudley-McCullough Syndrome      OCM       
#303400  Cleft palate with ankyloglossia           
#119600  Cleidocranial dysplasia           
#133540  Cockayne Syndrome, type B  OOM         
#600373  CODAS syndrome      OCM       
#216550  Cohen Syndrome           
  Congenital Central Hypoventilation Syndrome           
#616326  Congenital Myasthenic Syndrome    OOM         
#310700  Congenital nystagmus             
#270420  Congenital Sodium Diarrhea           
#610042  Cortical Dysplasia-Focal Epilepsy Syndrome           
#203400  Corticosterone Methyloxidase Type 1 Deficiency           
#218030  Cortisol 11-Beta-ketoreductase deficiency           
#213980  Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (CFSMR)           
#218800  Crigler-Najjar syndrome    OOM         
#219700  Cystic fibrosis  OOM  OCM   
#219800  Cystinosis           
#220100  Cystinuria    OOM         
#221200  Deafness and myopia           
#220290  Deafness, nonsyndromic  OOM         
#135290  Desmoid disease, hereditary           
#605407  Dopa-responsive dystonia           
#128100  Dystonia 1, torsion, autosomal dominant (DYT1)           
#602629  Dystonia 6, torsion (DYT6)         
#225500  Ellis-van Creveld syndrome           
#612651  Endocrine-cerebro-osteodysplasia (ECO)           
#226700  Epidermolysis Bullosa Letalis           
  Epidermolysis Bullosa Simplex           
%606554  Episodic Ataxia, Type 3           
#612416  Factor 11 deficiency    OOM         
#175100  Familial adenomatous polyposis 1 (FAP1)           
#614937  Familial Cortical Myoclonus           
#615999  Familial dysalbuminemic hyperthyroxinemia           
*600958  Familial hypertropic cardiomyopathy           
#227645  Fanconi anemia, complementation group C           
#300624  Fragile X Mental Retardation Syndrome    OOM  OCM       
#219000  Fraser syndrome           
#230400  Galactosemia           
#251300  Galloway-Mowat syndrome           
#261000  Gastric Intrinsic Factor (GIF) deficiency    OOM         
#274500  Genetic Defect in Thyroid Hormonogenesis 2A           
#231070  Gerodermia Osteodysplastica       OCM       
#137580  Gilles De La Tourette Syndrome           
#263800  Gitelman Syndrome           
#231300  Glaucoma 3, primary congenital, A (GLC3A)           
#606824  Glucose-Galactose Malabsorption           
#231670  Glutaric acidemia I           
#231690  Glutaric Aciduria III           
#232500  Glycogen storage disease IV    OOM       
#232700  Glycogen storage disease VI    OOM         
%139600  Hairy Elbows           
#614504  HARS Deficiency           
%140300  Hashimoto Thyroiditis           
%267700  Hemophagocytic lymphohistiocytosis, familial, 1           
#603553  Hemophagocytic lymphohistiocytosis, familial, 2     OOM       
+306700  Hemophilia A           
+306900  Hemophilia B           
#609310  Hereditary non-polyposis colon cancer      OCM       
#600155  Hirschsprung disease 2    OOM       
#236250  Homocystinuria           
#607748  Hypercholanemia, familial           
  Hypertension       
#241500  Hypophosphatasia      OCM     
#218700  Hypothyroidism and muscular hypertrophy           
#252500  I-Cell Disease           
  Ichthyosis Microcephaly           
#610798  Immunodeficiency due to defect in MAPBP-interacting protein           
*603485  Infantile mitochondrial complex II/III deficiency    OOM         
#123150  Jackson-Weiss Syndrome (JWS)           
#220400  Jervell and Lange-Nielsen syndrome           
#205100  Joubert Syndrome           
  Joubert syndrome related disorder (JSRD)/ Meckel syndrome (MKS)           
#602390  Juvenile hemochromatosis, type 2A           
#256000  Leigh Syndrome    OCM     
%125480  Major Affective Disorder 1           
#145600  Malignant hyperthermia susceptibility           
#248600  Maple syrup urine disease    OOM     
#248900  Mast Syndrome           
#600496  Maturity-Onset Diabetes of the Young, Type 3           
#236700  McKusick-Kaufman Syndrome           
#201450  Medium-chain deficiency of Acyl-CoA dehydrogenase    OOM       
*590050  MELAS syndrome           
#614499  Mental retardation, autosomal recessive 34 (MRT34)    OOM         
#615637  Mental retardation, autosomal recessive 41 (MRT41)           
#251000  Methylmalonic acidurea due to methylmalonyl-CoA mutase deficiency           
#610377  Mevalonate kinase deficiency    OOM       
#210710  Microcephalic osteodysplastic primordial dwarfism           
#251270  Microcephaly and chorioretinopathy, autosomal recessive, 1 (MCCRP1)    OOM         
#607196  Microcephaly, Amish type           
#203700  Mitochondrial DNA depletion syndrome 4A            
#609560  Mitochondrial DNA depletion syndrome, Hepatocerebral form      OCM       
#253220  Mucopolysaccharidosis, type VII (MPS7)      OCM       
#253600  Muscular dystrophy, limb-girdle, type 2A           
#604286  Muscular dystrophy, limb-girdle, type 2E           
#254110  Muscular Dystrophy, Limb-Girdle, Type 2H           
#607155  Muscular Dystrophy, Limb-Girdle, Type 2I           
#609549  Nanophthalmos 2         
#605355  Nemaline myopathy 5           
#256100  Nephronophthisis-Juvenile           
#256300  Nephrosis 1, congenital, Finnish type    OOM         
#600995  Nephrotic Syndrome, Type 2           
#310500  Night blindness, congenital stationary, type 1           
#300071  Night Blindness, Congenital Stationary, Type 2           
#615516  Non-syndromic intellectual disability, autism, and gait disturbance  OOM         
%257800  Oculocerebral Syndrome with Hypopigmentation           
%257970  Oculorenocerebellar syndrome           
#603554  Omenn syndrome           
#166200  Osteogenesis Imperfecta, Type 1           
259690  Osteopenia and sparse hair           
#259770  Osteoporosis-pseudoglioma syndrome    OOM         
#234200  Pantothenate kinase-associated neurodegeneration           
#168600  Parkinson Disease           
#616361  Parkinson disease    OOM         
#613135  Parkinsonism-dystonia, infantile (PKDYS)    OOM         
#608804  Pelizaeus-Merzbacher-like syndrome           
#142680  Periodic Fever, Familial    OOM         
#261600  Phenylketonuria  OOM         
#609049  Pierson syndrome    OOM         
#262600  Pituitary Dwarfism III           
#613329  Plasminogen activator inhibitor-1 deficiency           
*608002  Polycystic kidney disease           
#611087  Polyhydramnios, megalencephaly and symptomatic epilepsy    OOM         
#609033  Posterior column ataxia with retinitis pigmentosa (AXPC1)    OOM         
#608644  Primary Ciliary Dyskinesia, Type 3         
#611726  Progressive myoclonus epilepsy with ataxia      OCM       
#170100  Prolidase deficiency           
#312060  Properdin Deficiency           
#606054  Propionic acidemia         
#614501  Psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED)           
#266200  Pyruvate kinase deficiency of red cells           
#266510  Refsum Disease, Infantile Form           
  Renal Hypoplasia           
#309500  Renpenning syndrome      OCM       
#275210  Restrictive dermopathy, lethal    OOM  OCM   
#215100  Rhizomelic Chondrodysplasia Punctata, Type 1 (RCDP1)           
#614498  Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL)           
#604369  Salla Disease    OOM         
#616682  Seizures, scoliosis, and macrocephaly syndrome (SSMS)    OOM         
#266900  Senior-Loken Syndrome 1           
#608971  Severe Combined Immunodeficiency, autosomal recessive, T cell-negative, B cell/NK cell-positive    OOM         
#102700  Severe Combined Immunodeficiency, due to adenosine deaminase deficiency    OCM     
#615617  Severe Combined Immunodeficiency, due to CD3-delta deficiency      OCM     
#269840  Severe Combined Immunodeficiency, due to ZAP70 deficiency      OCM     
#601457  Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Negative, NK Cell-Positive           
#602471  Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities (SAMS)      OCM       
#256550  Sialidosis, type II      OCM       
#210250  Sitosterolemia         
#613672  Spastic Ataxia 4, mtPAP deficiency             
#275900  Spastic paraplegia 20, autosomal recessive           
#253300  Spinal Muscular Atrophy, Type 1  OOM         
#253400  Spinal Muscular Atrophy, Type III           
271520  Spondylocostal dysostosis with anal atresia and urogenital anomalies      OCM       
+177400  Succinylcholine sensitivity           
#608800  Sudden infant death with dysgenesis of the testes syndrome           
#186000  Synpolydactyly 1             
#615879  Tatton-Brown-Rahman syndrome           
#273800  Thrombasthenia of Glanzmann and Naegeli           
#274400  Thyroid Dyshormonogenesis 1           
#234050  Trichothiodystrophy, Nonphotosensitive 1 (TTDN1)           
#276710  Tyrosinemia Type 3    OOM         
#602083  Usher Syndrome, Type 1F           
#239100  Van Buchem Syndrome, Autosomal Dominant           
#261100  Vitamin B12 Deficiency    OOM         
#193400  Von Willebrand disease           
#236670  Walker-Warburg Syndrome    OOM         
#277600  Weill-Marchesani syndrome           


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