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	A			M
#610198	3-Methylglutaconic Aciduria, Type V					H
#300600	Åland Island Eye Disease	A			M
%201550	Adducted Thumbs Syndrome	A
#202110	Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency				M
#201910	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	A		OCM
#201810	Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	A
#202010	Adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency	A
#612952	Aicardi-Goutieres syndrome 5	A
#606952	Albinism, oculocutaneous, type 1B	A
#613490	Alpha-1 antitrypsin deficiency	A	OOM
#203800	Alström Syndrome				M
#300068	Androgen Insensitivity Syndrome					H
#208900	Ataxia Telangiectasia	A			M
#607585	Ataxia-telangiectasia - Variant				M
#613385	Autoimmune disease, multisystem, with facial dysmorphism (ADMFD)	A
*606565	Autosomal Recessive Cerebral Atrophy (ARCA)	A
#209900	Bardet-Biedl Syndrome	A				H
#607364	Bartter Syndrome, Type 3	A
#613680	Beaulieu-Boycott-Innes syndrome					H
#253260	Biotinidase deficiency	A	OOM	OCM	M
#135150	Birt-Hogg-Dube syndrome			OCM
#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
#115197	Cardiomyopathy, familial hypertropic, 4	A			M
#255120	Carnitine Palmitoyltransferase I Deficiency					H
#250250	Cartilage-hair hypoplasia	A
#212500	Cataract, Hutterite-type					H
#224050	Cerebellar Hypoplasia, VLDLR-Associated					H
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			OCM
#303400	Cleft palate with ankyloglossia				M
#119600	Cleidocranial dysplasia				M
#133540	Cockayne Syndrome, type B	A	OOM
#600373	CODAS syndrome			OCM
#216550	Cohen Syndrome	A
	Congenital Central Hypoventilation Syndrome	A
#616326	Congenital Myasthenic Syndrome		OOM
#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
#213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (CFSMR)	A
#218800	Crigler-Najjar syndrome		OOM
#219700	Cystic fibrosis	A	OOM	OCM	M	H
#219800	Cystinosis	A
#220100	Cystinuria		OOM
#221200	Deafness and myopia	A
#220290	Deafness, nonsyndromic	A	OOM
#135290	Desmoid disease, hereditary	A
#605407	Dopa-responsive dystonia					H
#128100	Dystonia 1, torsion, autosomal dominant (DYT1)				M
#602629	Dystonia 6, torsion (DYT6)	A			M
#225500	Ellis-van Creveld syndrome	A
#612651	Endocrine-cerebro-osteodysplasia (ECO)	A
#226700	Epidermolysis Bullosa Letalis	A
	Epidermolysis Bullosa Simplex	A
%606554	Episodic Ataxia, Type 3				M
#612416	Factor 11 deficiency		OOM
*603623	Failure to thrive, developmental delay, liver dysfunction, and abnormal subcortical white matter	A
#175100	Familial adenomatous polyposis 1 (FAP1)				M
#614937	Familial Cortical Myoclonus				M
#615999	Familial dysalbuminemic hyperthyroxinemia	A
#227645	Fanconi anemia, complementation group C			OCM	M
#300624	Fragile X Mental Retardation Syndrome		OOM	OCM
#219000	Fraser syndrome	A
#230400	Galactosemia	A
#251300	Galloway-Mowat syndrome	A
#261000	Gastric Intrinsic Factor (GIF) deficiency		OOM
#274500	Genetic Defect in Thyroid Hormonogenesis 2A	A
#231070	Gerodermia Osteodysplastica			OCM
#137580	Gilles De La Tourette Syndrome				M
#263800	Gitelman Syndrome	A
#273800	Glanzmann Thrombasthenia				M
#231300	Glaucoma 3, primary congenital, A (GLC3A)	A
#606824	Glucose/galactose malabsorption	A
#231670	Glutaric acidemia I	A
#231690	Glutaric Aciduria III	A
#232500	Glycogen storage disease IV		OOM		M
#232700	Glycogen storage disease VI		OOM
#609056	GM3 synthase deficiency	A
%139600	Hairy Elbows	A
#614504	HARS Deficiency	A
%140300	Hashimoto Thyroiditis	A
%267700	Hemophagocytic lymphohistiocytosis, familial, 1				M
#603553	Hemophagocytic lymphohistiocytosis, familial, 2		OOM		M
+306700	Hemophilia A					H
+306900	Hemophilia B	A
#609310	Hereditary non-polyposis colon cancer			OCM
#600155	Hirschsprung disease 2		OOM		M
#236250	Homocystinuria	A
#607748	Hypercholanemia, familial	A
	Hypertension	A			M	H
#241500	Hypophosphatasia			OCM		H
#218700	Hypothyroidism and muscular hypertrophy	A
	Ichthyosis Microcephaly	A
#610798	Immunodeficiency due to defect in MAPBP-interacting protein				M
*603485	Infantile mitochondrial complex II/III deficiency		OOM
#123150	Jackson-Weiss syndrome	A
#217080	Jalili syndrome	A
#220400	Jervell and Lange-Nielsen syndrome	A
#614424	Joubert syndrome related disorder (JSRD)					H
#602390	Juvenile hemochromatosis, type 2A				M
#256000	Leigh Syndrome	A		OCM		H
%125480	Major Affective Disorder 1	A
#145600	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
*590050	MELAS syndrome	A
#614499	Mental retardation, autosomal recessive 34 (MRT34)		OOM
#615637	Mental retardation, autosomal recessive 41 (MRT41)	A
#251000	Methylmalonic acidurea due to methylmalonyl-CoA mutase deficiency					H
#610377	Mevalonate kinase deficiency		OOM		M
#210710	Microcephalic osteodysplastic primordial dwarfism	A
#251270	Microcephaly and chorioretinopathy, autosomal recessive, 1 (MCCRP1)		OOM
#607196	Microcephaly, Amish type	A
#203700	Mitochondrial DNA depletion syndrome 4A	A
#609560	Mitochondrial DNA depletion syndrome, Hepatocerebral form			OCM
#252500	Mucolipidosis II alpha/beta	A	OOM
#253220	Mucopolysaccharidosis, type VII (MPS7)			OCM
#236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly	A		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
#604387	Nephronophthisis 3	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 2A			OCM	M
#615516	Non-syndromic intellectual disability, autism, and gait disturbance	A	OOM
%257800	Oculocerebral Syndrome with Hypopigmentation	A
%257970	Oculorenocerebellar syndrome				M
#603554	Omenn syndrome	A
#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
#616361	Parkinson disease		OOM
#613135	Parkinsonism-dystonia, infantile (PKDYS)		OOM
#608804	Pelizaeus-Merzbacher-like syndrome	A
#142680	Periodic Fever, Familial		OOM
#261600	Phenylketonuria	A	OOM
#609049	Pierson syndrome		OOM
#262600	Pituitary Dwarfism III					H
#613329	Plasminogen activator inhibitor-1 deficiency	A
#611087	Polyhydramnios, megalencephaly and symptomatic epilepsy		OOM
#609033	Posterior column ataxia with retinitis pigmentosa		OOM
#608644	Primary Ciliary Dyskinesia, Type 3	A			M
#611726	Progressive myoclonus epilepsy with ataxia			OCM
#170100	Prolidase deficiency	A
#312060	Properdin Deficiency				M
#606054	Propionic acidemia	A			M
#614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism (PMRED)	A
#266200	Pyruvate kinase deficiency of red cells	A
#266510	Refsum Disease, Infantile Form	A
	Renal Hypoplasia	A
#309500	Renpenning syndrome			OCM
#275210	Restrictive dermopathy, lethal		OOM	OCM	M	H
#215100	Rhizomelic Chondrodysplasia Punctata, Type 1 (RCDP1)			OCM	M
#614498	Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL)	A
#604369	Salla Disease		OOM
#616682	Seizures, scoliosis, and macrocephaly syndrome (SSMS)		OOM
#266900	Senior-Loken Syndrome 1	A
#608971	Severe Combined Immunodeficiency, autosomal recessive, T cell-negative, B cell/NK cell-positive		OOM
#102700	Severe Combined Immunodeficiency, due to adenosine deaminase deficiency	A		OCM	M
#615617	Severe Combined Immunodeficiency, due to CD3-delta deficiency			OCM	M
#269840	Severe Combined Immunodeficiency, due to ZAP70 deficiency			OCM	M
#601457	Severe Combined Immunodeficiency, T Cell-Negative, B Cell-Negative, NK Cell-Positive	A
#602471	Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities (SAMS)			OCM
#256550	Sialidosis, type II			OCM
#210250	Sitosterolemia	A				H
#613672	Spastic Ataxia 4, mtPAP deficiency	A
#275900	Spastic paraplegia 20, autosomal recessive	A
#253300	Spinal Muscular Atrophy, Type I	A	OOM
#253400	Spinal Muscular Atrophy, Type III					H
#612576	Split-hand/foot malformation with long bone deficiency 3				M
271520	Spondylocostal dysostosis with anal atresia and urogenital anomalies			OCM
#617936	Succinylcholine sensitivity					H
#608800	Sudden infant death with dysgenesis of the testes syndrome	A
#186000	Synpolydactyly 1	A
#615879	Tatton-Brown-Rahman syndrome	A
#274400	Thyroid Dyshormonogenesis 1					H
#618268	Trichohepatoneurodevelopmental syndrome	A
#234050	Trichothiodystrophy 4, Nonphotosensitive (TTD4)	A
#276710	Tyrosinemia Type 3		OOM
#602083	Usher Syndrome, Type 1F					H
#239100	Van Buchem Syndrome, Autosomal Dominant					H
#261100	Vitamin B12 Deficiency		OOM
#193400	Von Willebrand disease	A
#236670	Walker-Warburg Syndrome		OOM
#277600	Weill-Marchesani syndrome	A

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