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 ]
					M
					M
#231070	Gerodermia Osteodysplastica			OCM
+201810	3-beta-Hydroxysteroid dehydrogenase deficiency	A
#210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency	A			M
#610198	3-Methylglutaconic Aciduria, Type V					H
%201550	Adducted Thumbs Syndrome	A
#606952	Albinism, oculocutaneous, type 1B	A
+107400	Alpha-1 antitrypsin deficiency		OOM
#203800	Alstrom Syndrome				M
#609056	Amish infantile epilepsy syndrome	A
#300068	Androgen Insensitivity Syndrome					H
#208900	Ataxia Telangiectasia	A			M
	Ataxia-telangiectasia - Variant
#209900	Bardet-Biedl Syndrome	A				H
#607364	Bartter Syndrome, Type 3	A
#253260	Biotinidase deficiency		OOM
#210900	Bloom Syndrome				M
%211180	Bowen-Conradi Syndrome					H
*113705	Breast Cancer, BRCA1					H
*600185	Breast Cancer, BRCA2					H
#115200	Cardiomyopathy, dilated, with AV block	A
#255120	Carnitine Palmitoyltransferase I Deficiency					H
#250250	Cartilage-hair hypoplasia	A
%212500	Cataract, Congenital or Juvenile					H
#224050	Cerebellar Hypoplasia, VLDLR-Associated					H
	Cerebral vasculopathy and early onset stroke	A
	cerebral vasculopathy and early onset stroke	A
236450	Cerebro-osteo-nephrodysplasia					H
#214400	Charcot-Marie-Tooth Disease, Type 4A	A
#211600	Cholestasis, progressive familial intrahepatic 1	A
#306400	Chronic Granulomatous Disease	A
%604213	Chudley-McCullough Syndrome				M
#303400	Cleft palate with ankyloglossia				M
*600211	Cleidocranial dysplasia				M
#133540	Cockayne Syndrome, Type B	A
#221200	Coclear deafness, myopia, and intellectual impairment	A
600373	CODAS syndrome			OCM
#216550	Cohen Syndrome	A
#202010	Congenital Adrenal Hyperplasia, due to 11-hydroxylase deficiency	A
#202110	Congenital Adrenal Hyperplasia, Due To 17-Alpha-Hydroxylase Deficiency				M
%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
#218800	Crigler-Najjar syndrome		OOM
#219700	Cystic fibrosis	A	OOM	OCM		H
#219800	Cystinosis	A
#220100	Cystinuria		OOM
#220290	Deafness, nonsyndromic		OOM
#135290	Desmoid disease, hereditary	A
#605407	Dopa-responsive dystonia					H
*602629	Dystonia 6, Torsion, Adult Onset				M
#225500	Ellis-van Creveld syndrome	A
	Endocrine-cerebro-osteodysplasia	A
#226700	Epidermolysis Bullosa Letalis	A
%606554	Episodic Ataxia, Type 3				M
#612416	Factor 11 deficiency		OOM
#614937	Familial Cortical Myoclonus				M
*600958	Familial hypertropic cardiomyopathy				M
	Fanconi Anemia				M
#300624	Fragile X Mental Retardation Syndrome		OOM	OCM
#230400	Galactosemia	A
#274400	Genetic Defect in Thyroid Hormonogenesis 1					H
#274500	Genetic Defect in Thyroid Hormonogenesis 2A	A
#137580	Gilles De La Tourette Syndrome				M
#263800	Gitelman Syndrome	A
	Global Developmental Delay and Autism Spectrum Disorder	A	OOM
#231670	Glutaric acidemia I	A
#231690	Glutaric Aciduria, Type 3	A
+232500	Glycogen storage disease IV				M
+232700	Glycogen storage disease VI		OOM
%140300	Hashimoto Thyroiditis	A
%267700	Hemophagocytic lymphohistiocytosis, familial, 1				M
#60355	Hemophagocytic lymphohistiocytosis, familial, 2		OOM		M
+306700	Hemophilia A					H
+306900	Hemophilia B	A
*609309	Hereditary non-polyposis colon cancer				M
#600155	Hirschsprung disease 2				M
#236250	Homocystinuria	A
#607748	Hypercholanemia, familial	A
	Hypertension	A			M	H
#241500	Hypophosphatasia			OCM		H
#218700	Hypothyroidism and muscular hypertrophy	A
#610798	Immunodeficiency due to defect in MAPBP-interacting protein				M
	Infantile parkinsonism-dystonia	A	OOM
	Interleukin-7 receptor alpha chain deficiency	A	OOM
#274400	Iodide Transporter Defect (Genetic Defect in Thyroid Hormonogenesis)					H
	ITCH E3 Ubqiquitin Ligase Related Syndromic Multisystem Autoimmune Disease	A
#123150	Jackson-Weiss Syndrome (JWS)	A
#220400	Jervell and Lange-Nielsen syndrome	A
	Joubert syndrome related disorder (JSRD)/ Meckel syndrome (MKS)					H
#256000	Leigh Syndrome			OCM
	Lethal neonatal rigidity and seizure syndrome	A	OOM
%125480	Major Affective Disorder 1	A
*180901	Malignant hyperthermia susceptibility				M
#248600	Maple syrup urine disease		OOM		M	H
#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		OOM		M
none	Mental retardation, non-syndromic	A	OOM
#251000	Methylmalonic acidurea due to methylmalonyl-CoA mutase deficiency					H
+251170	Mevalonate kinase deficiency				M
#251270	Microcephaly with chorioretinopathy	A	OOM
#607196	Microcephaly, Amish type	A
#609560	Mitochondrial DNA depletion syndrome, Hepatocerebral form			OCM
%252350	Moyamoya disease 1	A			M
+253220	Mucopolysaccharidosis type VII			OCM
#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
#609549	Nanophthalmos 2	A			M
#605355	Nemaline myopathy 5	A
#256100	Nephronophthisis-Juvenile					H
#256300	Nephrosis 1, congenital, Finnish type		OOM
#600995	Nephrotic Syndrome, Type 2	A
#310500	Night blindness, congenital stationary, type 1				M
#300071	Night Blindness, Congenital Stationary, Type 2				M
%257800	Oculocerebral Syndrome with Hypopigmentation	A
%257970	Oculorenocerebellar syndrome				M
#603554	Omenn syndrome	A	OOM
#166200	Osteogenesis Imperfecta, Type 1	A
259690	Osteopenia and sparse hair				M
#259770	Osteoporosis-pseudoglioma syndrome		OOM
#234200	Pantothenate kinase-associated neurodegeneration	A
#168600	Parkinson Disease	A
#608804	Pelizaeus-Merzbacher-like syndrome	A
#142680	Periodic Fever, Familial		OOM
+261600	Phenylketonuria	A	OOM
	Pierson syndrome phenotypic varient		OOM
#262600	Pituitary Dwarfism III					H
#611087	Polyhydramnios, megalencephaly and symptomatic epilepsy		OOM
#609033	Posterior column ataxia with retinitis pigmentosa	A	OOM
#608644	Primary Ciliary Dyskinesia, Type 3	A
#231300	Primary Congenital Glaucoma 3A	A
+170100	Prolidase deficiency	A
#312060	Properdin Deficiency				M
#606054	Propionic acidemia	A			M
#266200	Pyruvate kinase deficiency of red cells	A
#266510	Refsum Disease, Infantile Form	A
#309500	Renpenning syndrome			OCM
	Restrictive Dermopathy				M
#215100	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 (RCDP1 )				M
#604369	Salla Disease		OOM
+176947	Selective T Cell Deficiency			OCM
#266900	Senior-Loken Syndrome 1	A
#608971	Severe Combined Immunodeficiency, CD3 delta deficiency variant				M
#601457	Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Negative, NK Cell-Positive	A
#102700	Severe Combined Immunodeficiency; due to adenosine deaminase deficiency	A		OCM
602471	Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities				M
#210250	Sitosterolemia	A				H
#275900	Spastic paraplegia 20, autosomal recessive	A
#253300	Spinal Muscular Atrophy, Type 1
#253400	Spinal Muscular Atrophy, Type III					H
271520	Spondylocostal dysostosis with anal atresia and urogenital anomalies			OCM
+177400	Succinylcholine sensitivity					H
#608800	Sudden infant death with dysgenesis of the testes syndrome	A
	Symptomatic epilesy and skull dysplasia	A	OOM
#273800	Thrombasthenia of Glanzmann and Naegeli				M
#275210	Tight skin contracture syndrome, lethal			OCM		H
	TMCO1 defect syndrome	A
*605204	Torsin-A, DYT1				M
#234050	Trichothiodystrophy, Nonphotosensitive 1	A
#276710	Tyrosinemia Type 3		OOM
	Usher Syndrome due to HARS	A	OOM
#602083	Usher Syndrome, Type 1F					H
#239100	Van Buchem Syndrome, Autosomal Dominant					H
#261100	Vitamin B12 Deficiency		OOM
#277580	Waardenburg-Shah Syndrome				M
#277600	Weill-Marchesani syndrome	A

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