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           
#216900  Achromatopsia 2    OOM         
%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           
#615010  Aicardi-Goutieres syndrome 6    OOM         
#300600  Åland Island Eye Disease         
#606952  Albinism, oculocutaneous, type 1B           
#203200  Albinism, oculocutaneous, type II    OOM         
#613490  Alpha-1 antitrypsin deficiency  OOM         
#203800  Alström Syndrome           
#300068  Androgen Insensitivity Syndrome         
#101200  Apert syndrome           
#613546  Aromatase deficiency    OOM         
#610476  Arrhythmogenic right ventricular dysplasia 11           
#208900  Ataxia Telangiectasia    OCM     
*607585  Ataxia-telangiectasia serine/threonine kinase      OCM     
#613385  Autoimmune disease, multisystem, with facial dysmorphism           
*606565  Autosomal Recessive Cerebral Atrophy           
#611451  Autosomal recessive deafness 63    OOM         
#209900  Bardet-Biedl Syndrome  OOM       
#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         
#211600  Byler disease           
#604772  Calcium Release Channel Deficiency Syndrome           
#115200  Cardiomyopathy, dilated, 1A           
#115197  Cardiomyopathy, familial hypertropic, 4         
#255120  Carnitine Palmitoyltransferase I Deficiency           
#250250  Cartilage-hair hypoplasia           
#212500  Cataract, Hutterite-type           
#224050  Cerebellar Hypoplasia, VLDLR-Associated           
#116860  Cerebral cavernous malformations    OOM         
236450  Cerebro-osteo-nephrodysplasia           
#601596  Charcot-Marie-Tooth disease type 4C    OOM         
#214400  Charcot-Marie-Tooth Disease, Type 4A           
#614895  Charcot-Marie-Tooth disease, type 4F    OOM         
#306400  Chronic Granulomatous Disease           
#604213  Chudley-McCullough Syndrome      OCM       
#614874  Ciliary dyskinesia, primary, 18           
#303400  Cleft palate with ankyloglossia           
#119600  Cleidocranial dysplasia           
#133540  Cockayne Syndrome, type B  OOM         
#600373  CODAS syndrome    OCM       
#216550  Cohen Syndrome           
#619386  Combined oxidative phosphorylation deficiency 52    OOM         
  Congenital Central Hypoventilation Syndrome           
#256800  Congenital insensitivity to pain with anhidrosis    OOM         
#616326  Congenital Myasthenic Syndrome    OOM         
#270420  Congenital Sodium Diarrhea           
#203400  Corticosterone Methyloxidase Type 1 Deficiency           
#218030  Cortisol 11-Beta-ketoreductase deficiency           
#213980  Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome           
#218800  Crigler-Najjar syndrome    OOM         
#219700  Cystic fibrosis  OOM  OCM   
#219800  Cystinosis    OCM       
#220100  Cystinuria    OOM         
#221200  Deafness and myopia           
#220290  Deafness, autosomal recessive   OOM     
#135290  Desmoid disease, hereditary           
#614616  Diarrhea 6    OOM         
#222600  Diastrophic dysplasia    OOM         
#605407  Dopa-responsive dystonia           
#310200  Duchenne muscular dystrophy  OOM         
#128100  Dystonia 1, torsion, autosomal dominant           
#602629  Dystonia 6, torsion         
#225500  Ellis-van Creveld syndrome           
#612651  Endocrine-cerebro-osteodysplasia           
#226700  Epidermolysis Bullosa Letalis           
  Epidermolysis Bullosa Simplex           
#604233  Epilepsy, generalized, with febrile seizures plus, type 1    OOM         
%606554  Episodic Ataxia, Type 3           
#612416  Factor 11 deficiency    OOM         
#227400  Factor 5 deficiency  OOM         
#175100  Familial adenomatous polyposis 1           
#614937  Familial Cortical Myoclonus           
#615999  Familial dysalbuminemic hyperthyroxinemia           
#604364  Familial focal epilepsy with variable foci 1    OOM         
#617118  Familial focal epilepsy with variable foci 3    OOM         
#144010  Familial hypercholesterolemia 2           
#227645  Fanconi anemia, complementation group C      OCM     
#219000  Fraser syndrome           
#230400  Galactosemia           
#251300  Galloway-Mowat syndrome           
#261000  Gastric Intrinsic Factor deficiency    OOM         
#231070  Gerodermia Osteodysplastica       OCM       
#137580  Gilles de la Tourette Syndrome      OCM       
#263800  Gitelman Syndrome           
#273800  Glanzmann Thrombasthenia           
#231300  Glaucoma 3, primary congenital, A           
#606824  Glucose/galactose malabsorption           
#231670  Glutaric acidemia I           
#231690  Glutaric Aciduria III           
#605899  Glycine encephalopathy           
#232200  Glycogen storage disease Ia           
#232300  Glycogen storage disease II    OOM         
#232500  Glycogen storage disease IV    OOM       
#232700  Glycogen storage disease VI    OOM         
#230500  GM1-gangliosidosis, type I           
#609056  GM3 synthase deficiency           
#139090  Gray platelet syndrome           
%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           
#229600  Hereditary fructose intolerance    OOM         
#235200  Hereditary hemochromatosis           
#609310  Hereditary non-polyposis colon cancer      OCM       
#600155  Hirschsprung disease 2    OOM       
#142900  Holt-Oram syndrome           
#236250  Homocystinuria           
#607748  Hypercholanemia, familial           
#256450  Hyperinsulinemic hypoglycemia of infancy           
  Hypertension       
#608804  Hypomyelinating leukodystrophy 2           
#241500  Hypophosphatasia      OCM     
#218700  Hypothyroidism and muscular hypertrophy           
  Ichthyosis Microcephaly           
#610798  Immunodeficiency due to defect in MAPBP-interacting protein           
#143880  Infantile hypercalcemia 1           
#619418  Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2           
#616069  Inflammatory skin and bowel disease, neonatal, 2    OOM         
#614499  Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly    OOM         
#614020  Intellectual developmental disorder, autosomal recessive 14           
#615637  Intellectual developmental disorder, autosomal recessive 41           
#615942  Intellectual developmental disorder, autosomal recessive 44    OOM         
#617270  Intellectual developmental disorder, autosomal recessive 58           
#618402  Intellectual developmental disorder, autosomal recessive, 70           
#300997  Intellectual developmental disorder, X-linked 106           
#309590  Intellectual developmental disorder, X-linked syndromic, Turner type           
#123150  Jackson-Weiss syndrome           
#217080  Jalili syndrome           
#220400  Jervell and Lange-Nielsen syndrome           
#614424  Joubert syndrome related disorder           
#602390  Juvenile hemochromatosis, type 2A           
#267750  Knobloch syndrome           
#256000  Leigh Syndrome  OOM  OCM     
#615980  Lipodystrophy, familial partial, type 6           
#192500  Long QT syndrome 1           
#613688  Long QT syndrome 2           
#309000  Lowe syndrome           
%125480  Major Affective Disorder 1  OOM         
#145600  Malignant hyperthermia susceptibility           
#248600  Maple syrup urine disease    OOM     
#154700  Marfan syndrome           
#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       
#540000  MELAS syndrome           
#616878  Metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmias, neurodegeneration    OOM         
#277400  Methylmalonic aciduria and homocystinuria, cblC type           
#251000  Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency           
#610377  Mevalonate kinase deficiency    OOM       
#210710  Microcephalic osteodysplastic primordial dwarfism, type 1           
#251270  Microcephaly and chorioretinopathy, autosomal recessive, 1    OOM         
#607196  Microcephaly, Amish type           
#615458  Microcornea with myopic chorioretinal atrophy and telecanthus           
#203700  Mitochondrial DNA depletion syndrome 4A            
#251880  Mitochondrial DNA depletion syndrome, Hepatocerebral form      OCM       
*611766  MTFMT deficiency           
#252500  Mucolipidosis II alpha/beta  OOM         
#253220  Mucopolysaccharidosis, type VII      OCM       
#602849  Muenke syndrome           
#236500  Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly    OCM       
#133700  Multiple exostoses, type 1           
#265000  Multiple pterygium syndrome, Escobar variant           
#253600  Muscular dystrophy, limb-girdle, autosomal recessive 1           
#604286  Muscular dystrophy, limb-girdle, autosomal recessive 4           
#601287  Muscular dystrophy, limb-girdle, autosomal recessive 6           
#254110  Muscular dystrophy, limb-girdle, autosomal recessive 8           
#607155  Muscular Dystrophy, Limb-Girdle, Type 2I           
*604065  Myoclonic-astatic epilepsy           
#160900  Myotonic dystrophy-1           
#609549  Nanophthalmos 2         
#605355  Nemaline myopathy 5    OCM       
#604387  Nephronophthisis 3           
#256100  Nephronophthisis-Juvenile           
#256300  Nephrosis syndrome, Type 1    OOM         
#600995  Nephrotic Syndrome, Type 2           
#614501  Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures           
#601780  Neuronal ceroid lipofuscinosis 6           
#310500  Night blindness, congenital stationary, type 1           
#300071  Night blindness, congenital stationary, type 2A      OCM     
*606949  Non-syndromic intellectual developmental disorder           
*613175  Non-syndromic intellectual developmental disorder           
#615516  Non-syndromic intellectual disability, autism, and gait disturbance  OOM         
%257800  Oculocerebral Syndrome with Hypopigmentation           
%257970  Oculorenocerebellar syndrome           
#603554  Omenn syndrome           
#311250  Ornithine transcarbamylase deficiency           
*603551  Orofacial clefting           
#166200  Osteogenesis Imperfecta, Type 1           
#610915  Osteogenesis imperfecta, type VIII    OOM         
259690  Osteopenia and sparse hair           
#259770  Osteoporosis-pseudoglioma syndrome    OOM         
#234200  Pantothenate kinase-associated neurodegeneration           
#168600  Parkinson disease           
#616361  Parkinson disease    OOM         
  Parkinson disease, juvenile, type 2           
#613135  Parkinsonism-dystonia, infantile    OOM         
#608804  Pelizaeus-Merzbacher-like syndrome           
#142680  Periodic Fever, Familial    OOM         
#101600  Pfeiffer syndrome           
#261600  Phenylketonuria  OOM         
#609049  Pierson syndrome    OOM         
#610042  Pitt-Hopkins-like Syndrome 1           
#262600  Pituitary hormone deficiency 2, combined            
#613329  Plasminogen activator inhibitor-1 deficiency           
#173900  Polycystic kidney disease 1           
#611087  Polyhydramnios, megalencephaly and symptomatic epilepsy    OOM         
#615960  Poretti-Boltshauser syndrome           
#609033  Posterior column ataxia with retinitis pigmentosa    OOM         
#608644  Primary Ciliary Dyskinesia, Type 3         
#608393  Primary microcephaly 6           
#611726  Progressive myoclonus epilepsy with ataxia      OCM       
#170100  Prolidase deficiency           
#312060  Properdin deficiency           
#606054  Propionic acidemia           
#185800  Proximal symphalangism 1A           
*611176  Psychomotor delay and intractable seizures    OOM         
#266200  Pyruvate kinase deficiency of red cells           
#266510  Refsum Disease, Infantile Form           
  Renal Hypoplasia           
*179820  Renin deficiency           
#309500  Renpenning syndrome      OCM       
#275210  Restrictive dermopathy, lethal    OOM  OCM   
#267500  Reticular dysgenesis           
#215100  Rhizomelic Chondrodysplasia Punctata, type 1      OCM     
#614498  Rigidity and multifocal seizure syndrome, lethal neonatal           
#604369  Salla Disease    OOM         
#616682  Seizures, scoliosis, and macrocephaly syndrome    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      OCM       
#256550  Sialidosis, type II      OCM       
#210250  Sitosterolemia         
#613672  Spastic Ataxia 4, mtPAP deficiency             
#615030  Spastic paraplegia 56    OOM         
#253300  Spinal Muscular Atrophy, Type I  OOM         
#253400  Spinal Muscular Atrophy, Type III           
#610743  Spinocerebellar ataxia, autosomal recessive 8           
#612576  Split-hand/foot malformation with long bone deficiency 3           
271520  Spondylocostal dysostosis with anal atresia and urogenital anomalies      OCM       
#143095  Spondyloepiphyseal dysplasia and humerospinal dysostosis           
#617936  Succinylcholine sensitivity           
#608800  Sudden infant death with dysgenesis of the testes syndrome           
#186000  Synpolydactyly 1             
#615879  Tatton-Brown-Rahman syndrome           
#614742  Telomere-related pulmonary fibrosis and/or bone marrow failure 1    OOM         
#187600  Thanatophoric dysplasia, type I  OOM         
#274400  Thyroid Dyshormonogenesis 1           
#274500  Thyroid Dyshormonogenesis 2A           
#601005  Timothy Syndrome           
  Torkelson syndrome    OOM         
#618268  Trichohepatoneurodevelopmental syndrome           
#234050  Trichothiodystrophy 4, nonphotosensitive           
#275900  Troyer syndrome           
#276710  Tyrosinemia Type 3    OOM         
#602083  Usher Syndrome, Type 1F           
#239100  Van Buchem disease           
#201475  Very long-chain acyl-CoA dehydrogenase deficiency           
#261100  Vitamin B12 Deficiency    OOM         
#193400  Von Willebrand disease           
#236670  Walker-Warburg Syndrome    OOM         
#277600  Weill-Marchesani syndrome           
#194050  Williams-Beuren syndrome           
#222300  Wolfram syndrome           
#614872  Zellweger syndrome           


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