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 
3MethylcrotonylCoA carboxylase 2 deficiency 
A 


M 


#610198 
3Methylglutaconic Aciduria, Type V 




H 

#300600 
Åland Island Eye Disease 
A 


M 


#216900 
Achromatopsia 2 

OOM 




%201550 
Adducted Thumbs Syndrome 
A 





#202110 
Adrenal hyperplasia, congenital, due to 17alphahydroxylase deficiency 



M 


#201910 
Adrenal hyperplasia, congenital, due to 21hydroxylase deficiency 
A 

OCM 



#201810 
Adrenal hyperplasia, congenital, due to 3betahydroxysteroid dehydrogenase 2 deficiency 
A 





#202010 
Adrenal hyperplasia, congenital, due to steroid 11betahydroxylase deficiency 
A 





#612952 
AicardiGoutieres syndrome 5 
A 





#615010 
AicardiGoutieres syndrome 6 

OOM 




#606952 
Albinism, oculocutaneous, type 1B 
A 





#203200 
Albinism, oculocutaneous, type II 

OOM 




#613490 
Alpha1 antitrypsin deficiency 
A 
OOM 




#203800 
Alström Syndrome 



M 


#300068 
Androgen Insensitivity Syndrome 
A 



H 

#105830 
Angelman syndrome 
A 





#101200 
Apert syndrome 
A 





#208900 
Ataxia Telangiectasia 
A 


M 


*607585 
Ataxiatelangiectasia  Variant 

OOM 

M 


#613385 
Autoimmune disease, multisystem, with facial dysmorphism (ADMFD) 
A 





*606565 
Autosomal Recessive Cerebral Atrophy (ARCA) 
A 





#611451 
Autosomal recessive deafness 63 

OOM 




#209900 
BardetBiedl Syndrome 
A 



H 

#607364 
Bartter Syndrome, Type 3 
A 





#613680 
BeaulieuBoycottInnes syndrome 




H 

#253260 
Biotinidase deficiency 
A 
OOM 
OCM 
M 


#135150 
BirtHoggDube syndrome 


OCM 



#210900 
Bloom Syndrome 



M 


#211180 
BowenConradi Syndrome 




H 

*113705 
Breast Cancer, BRCA1 




H 

*600185 
Breast Cancer, BRCA2 
A 



H 

*180902 
Calcium Release Channel Deficiency Syndrome 
A 





#115200 
Cardiomyopathy, dilated, with AV block 
A 





#115197 
Cardiomyopathy, familial hypertropic, 4 
A 


M 


#255120 
Carnitine Palmitoyltransferase I Deficiency 




H 

#250250 
Cartilagehair hypoplasia 
A 





#212500 
Cataract, Hutteritetype 




H 

#224050 
Cerebellar Hypoplasia, VLDLRAssociated 




H 

#116860 
Cerebral cavernous malformations 1 

OOM 




236450 
Cerebroosteonephrodysplasia 




H 

#601596 
CharcotMarieTooth disease type 4C 

OOM 




#214400 
CharcotMarieTooth Disease, Type 4A 
A 





#614895 
CharcotMarieTooth disease, type 4F 

OOM 




#211600 
Cholestasis, progressive familial intrahepatic 1 
A 





#306400 
Chronic Granulomatous Disease 
A 





#604213 
ChudleyMcCullough Syndrome 


OCM 



#614874 
Ciliary dyskinesia, primary, 18 

OOM 




#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 





#256800 
Congenital insensitivity to pain with anhidrosis 

OOM 




#616326 
Congenital Myasthenic Syndrome 

OOM 




#270420 
Congenital Sodium Diarrhea 
A 





#610042 
Cortical DysplasiaFocal Epilepsy Syndrome 
A 





#203400 
Corticosterone Methyloxidase Type 1 Deficiency 
A 





#218030 
Cortisol 11Betaketoreductase deficiency 



M 


#213980 
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (CFSMR) 
A 





#218800 
CriglerNajjar 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 

M 
H 

#135290 
Desmoid disease, hereditary 
A 





#222600 
Diastrophic dysplasia 

OOM 




#605407 
Doparesponsive dystonia 




H 

#310200 
Duchenne muscular dystrophy 
A 
OOM 




#128100 
Dystonia 1, torsion, autosomal dominant (DYT1) 



M 


#602629 
Dystonia 6, torsion (DYT6) 
A 


M 


#225500 
Ellisvan Creveld syndrome 
A 





#612651 
Endocrinecerebroosteodysplasia (ECO) 
A 





#226700 
Epidermolysis Bullosa Letalis 
A 






Epidermolysis Bullosa Simplex 
A 





#604233 
Epilepsy, generalized, with febrile seizures plus, type 1 

OOM 




%606554 
Episodic Ataxia, Type 3 



M 


#612416 
Factor 11 deficiency 

OOM 




#227400 
Factor 5 deficiency 
A 
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 





#604364 
Familial focal epilepsy with variable foci 1 

OOM 




#617118 
Familial focal epilepsy with variable foci 3 

OOM 




#144010 
Familial hypercholesterolemia 2 
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 
GallowayMowat 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 





#605899 
Glycine encephalopathy 
A 





#232300 
Glycogen storage disease II 

OOM 




#232500 
Glycogen storage disease IV 

OOM 

M 


#232700 
Glycogen storage disease VI 

OOM 




#230500 
GM1gangliosidosis, type I 
A 





#609056 
GM3 synthase deficiency 
A 





#139090 
Grey platelet syndrome 



M 


%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 





#229600 
Hereditary fructose intolerance 

OOM 




#235200 
Hereditary hemochromatosis 
A 





#609310 
Hereditary nonpolyposis colon cancer 


OCM 



#600155 
Hirschsprung disease 2 

OOM 

M 


#142900 
HoltOram syndrome 
A 





#236250 
Homocystinuria 
A 





#607748 
Hypercholanemia, familial 
A 





#256450 
Hyperinsulinemic hypoglycemia of infancy 
A 






Hypertension 
A 


M 
H 

#608804 
Hypomyelinating leukodystrophy 2 
A 





#241500 
Hypophosphatasia 


OCM 

H 

#218700 
Hypothyroidism and muscular hypertrophy 
A 






Ichthyosis Microcephaly 
A 






Idiopathic generalized epilepsy 
A 





#610798 
Immunodeficiency due to defect in MAPBPinteracting protein 



M 


#143880 
Infantile hypercalcemia 1 
A 





*603485 
Infantile mitochondrial complex II/III deficiency 

OOM 




#616069 
Inflammatory skin and bowel disease, neonatal, 2 

OOM 




#123150 
JacksonWeiss syndrome 
A 





#217080 
Jalili syndrome 
A 





#220400 
Jervell and LangeNielsen syndrome 
A 





#614424 
Joubert syndrome related disorder (JSRD) 




H 

#602390 
Juvenile hemochromatosis, type 2A 



M 


#267750 
Knobloch syndrome 1 
A 





#256000 
Leigh Syndrome 
A 
OOM 
OCM 

H 

#613688 
Long QT syndrome 2 
A 





#309000 
Lowe syndrome 



M 


%125480 
Major Affective Disorder 1 
A 
OOM 




#145600 
Malignant hyperthermia susceptibility 



M 


#248600 
Maple syrup urine disease 

OOM 

M 
H 

#154700 
Marfan syndrome 
A 





#248900 
Mast Syndrome 
A 





#600496 
MaturityOnset Diabetes of the Young, Type 3 




H 

#236700 
McKusickKaufman Syndrome 
A 





#201450 
Mediumchain deficiency of AcylCoA dehydrogenase 
A 
OOM 

M 


*590050 
MELAS syndrome 
A 





#614499 
Mental retardation, autosomal recessive 34 (MRT34) 

OOM 




#615637 
Mental retardation, autosomal recessive 41 (MRT41) 
A 





#615942 
Mental retardation, autosomal recessive 44 

OOM 




#617270 
Mental retardation, autosomal recessive 58 
A 





#309590 
Mental retardation, Xlinked syndromic, Turner type 
A 





#616878 
Metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmias, neurodegeneration 

OOM 




#251000 
Methylmalonic acidurea due to methylmalonylCoA mutase deficiency 




H 

#277400 
Methylmalonic aciduria and homocystinuria, cblC type 
A 





#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 





#615458 
Microcornea with myopic chorioretinal atrophy and telecanthus 
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 



#602849 
Muenke syndrome 
A 





#236500 
Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 
A 

OCM 



#133700 
Multiple exostoses, type 1 
A 





#265000 
Multiple pterygium syndrome, Escobar variant 
A 





#601287 
Muscular dystrophy, limbgirdle, autosomal recessive 4 
A 





#253600 
Muscular dystrophy, limbgirdle, type 2A 
A 





#604286 
Muscular dystrophy, limbgirdle, type 2E 
A 





#254110 
Muscular Dystrophy, LimbGirdle, Type 2H 




H 

#607155 
Muscular Dystrophy, LimbGirdle, Type 2I 




H 

#160900 
Myotonic dystrophy1 
A 





#609549 
Nanophthalmos 2 
A 


M 


#605355 
Nemaline myopathy 5 
A 

OCM 



#604387 
Nephronophthisis 3 
A 





#256100 
NephronophthisisJuvenile 




H 

#256300 
Nephrosis 1, congenital, Finnish type 

OOM 




#600995 
Nephrotic Syndrome, Type 2 
A 





#601780 
Neuronal ceroid lipofuscinosis 6 
A 





#310500 
Night blindness, congenital stationary, type 1 



M 


#300071 
Night blindness, congenital stationary, type 2A 


OCM 
M 


#615516 
Nonsyndromic intellectual disability, autism, and gait disturbance 
A 
OOM 





Nonsyndromic mental retardation 
A 





*613175 
Nonsyndromic mental retardation 
A 





%257800 
Oculocerebral Syndrome with Hypopigmentation 
A 





%257970 
Oculorenocerebellar syndrome 



M 


#603554 
Omenn syndrome 
A 





#311250 
Ornithine transcarbamylase deficiency 
A 





*603551 
Orofacial clefting 
A 





#166200 
Osteogenesis Imperfecta, Type 1 
A 





#610915 
Osteogenesis imperfecta, type VIII 

OOM 




259690 
Osteopenia and sparse hair 



M 


#259770 
Osteoporosispseudoglioma syndrome 

OOM 




#234200 
Pantothenate kinaseassociated neurodegeneration 
A 





#168600 
Parkinson Disease 
A 





#616361 
Parkinson disease 

OOM 





Parkinson disease, juvenile, type 2 
A 





#613135 
Parkinsonismdystonia, infantile (PKDYS) 

OOM 




#608804 
PelizaeusMerzbacherlike syndrome 
A 





#142680 
Periodic Fever, Familial 

OOM 




#101600 
Pfeiffer syndrome 
A 





#261600 
Phenylketonuria 
A 
OOM 




#609049 
Pierson syndrome 

OOM 




#262600 
Pituitary Dwarfism III 




H 

#613329 
Plasminogen activator inhibitor1 deficiency 
A 





#173900 
Polycystic kidney disease 1 
A 





#611087 
Polyhydramnios, megalencephaly and symptomatic epilepsy 

OOM 




#615960 
PorettiBoltshauser syndrome 
A 





#609033 
Posterior column ataxia with retinitis pigmentosa 

OOM 




#176270 
PraderWilli syndrome 
A 
OOM 




#608644 
Primary Ciliary Dyskinesia, Type 3 
A 


M 


#608393 
Primary microcephaly 6 
A 





#611726 
Progressive myoclonus epilepsy with ataxia 


OCM 



#170100 
Prolidase deficiency 
A 





#312060 
Properdin Deficiency 



M 


#606054 
Propionic acidemia 
A 


M 


#185800 
Proximal symphalangism 1A 
A 





*611176 
Psychomotor delay and intractable seizures 

OOM 




#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 

#267500 
Reticular dysgenesis 
A 





#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 
SeniorLoken Syndrome 1 
A 





#608971 
Severe Combined Immunodeficiency, autosomal recessive, T cellnegative, B cell/NK cellpositive 

OOM 




#102700 
Severe Combined Immunodeficiency, due to adenosine deaminase deficiency 
A 

OCM 
M 


#615617 
Severe Combined Immunodeficiency, due to CD3delta deficiency 


OCM 
M 


#269840 
Severe Combined Immunodeficiency, due to ZAP70 deficiency 


OCM 
M 


#601457 
Severe Combined Immunodeficiency, T CellNegative, B CellNegative, NK CellPositive 
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 





#615030 
Spastic paraplegia 56 

OOM 




#253300 
Spinal Muscular Atrophy, Type I 
A 
OOM 




#253400 
Spinal Muscular Atrophy, Type III 




H 

#610743 
Spinocerebellar ataxia, autosomal recessive 8 
A 





#612576 
Splithand/foot malformation with long bone deficiency 3 



M 


271520 
Spondylocostal dysostosis with anal atresia and urogenital anomalies 


OCM 



#143095 
Spondyloepiphyseal dysplasia and humerospinal dysostosis 
A 





#617936 
Succinylcholine sensitivity 




H 

#608800 
Sudden infant death with dysgenesis of the testes syndrome 
A 





#186000 
Synpolydactyly 1 
A 





#615879 
TattonBrownRahman syndrome 
A 





#614742 
Telomererelated pulmonary fibrosis and/or bone marrow failure 1 

OOM 




#187600 
Thanatophoric dysplasia, type I 
A 
OOM 




#274400 
Thyroid Dyshormonogenesis 1 




H 

#601005 
Timothy Syndrome 
A 






Torkelson syndrome 

OOM 




#618268 
Trichohepatoneurodevelopmental syndrome 
A 





#234050 
Trichothiodystrophy 4, Nonphotosensitive (TTD4) 
A 





#275900 
Troyer syndrome 
A 





#276710 
Tyrosinemia Type 3 

OOM 




#602083 
Usher Syndrome, Type 1F 




H 

#239100 
Van Buchem Syndrome, Autosomal Dominant 




H 

#201475 
Very longchain acylCoA dehydrogenase deficiency 
A 





#261100 
Vitamin B12 Deficiency 

OOM 




#193400 
Von Willebrand disease 
A 





#236670 
WalkerWarburg Syndrome 

OOM 




#277600 
WeillMarchesani syndrome 
A 





#222300 
Wolfram syndrome 
A 





#300997 
Xlinked mental retardation 106 
A 





#614872 
Zellweger syndrome 
A 




