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
]
#210210  3-Methylcrotonyl-CoA carboxylase 2 deficiency       
#610198  3-Methylglutaconic Aciduria, Type V         
%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         
#300600  Aland Island Eye Disease         
#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   
#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         
#303400  Cleft palate with ankyloglossia         
#119600  Cleidocranial dysplasia         
#221200  Cochlear deafness, myopia, and intellectual impairment         
#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       
#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       
*612309  Factor V Leiden heterozygosity         
#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       
#274400  Genetic Defect in Thyroid Hormonogenesis 1         
#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 Syndrome         
%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)         
#147920  Kabuki         
#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         
*251170  Mevalonate kinase deficiency    OOM     
#210710  Microcephalic osteodysplastic primordial dwarfism         
#251270  Microcephaly and chorioretinopathy, autosomal recessive, 1 (MCCRP1)    OOM       
#607196  Microcephaly, Amish type         
*174763  Mitochondrial DNA depletion syndrome 4A          
#609560  Mitochondrial DNA depletion syndrome, Hepatocerebral form      OCM     
%252350  Moyamoya disease 1       
+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         
*173360  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           
#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         
#310500  X-linked incomplete congenital stationary night blindness         


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