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 


%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 





#606952 
Albinism, oculocutaneous, type 1B 
A 





*107400 
Alpha1 antitrypsin deficiency 
A 
OOM 




#203800 
Alström Syndrome 



M 


#609056 
Amish infantile epilepsy syndrome 
A 





#300068 
Androgen Insensitivity Syndrome 




H 

#208900 
Ataxia Telangiectasia 
A 


M 


#607585 
Ataxiatelangiectasia  Variant 



M 


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





*606565 
Autosomal Recessive Cerebral Atrophy (ARCA) 
A 





#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 




H 

#115200 
Cardiomyopathy, dilated, with AV block 
A 





#255120 
Carnitine Palmitoyltransferase I Deficiency 




H 

#250250 
Cartilagehair hypoplasia 
A 





%212500 
Cataract, Congenital or Juvenile 




H 

#224050 
Cerebellar Hypoplasia, VLDLRAssociated 




H 

236450 
Cerebroosteonephrodysplasia 




H 

#214400 
CharcotMarieTooth Disease, Type 4A 
A 





#211600 
Cholestasis, progressive familial intrahepatic 1 
A 





#306400 
Chronic Granulomatous Disease 
A 





#604213 
ChudleyMcCullough 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 




#310700 
Congenital nystagmus 
A 





#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 

OOM 




#135290 
Desmoid disease, hereditary 
A 





#605407 
Doparesponsive dystonia 




H 

#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 





%606554 
Episodic Ataxia, Type 3 



M 


#612416 
Factor 11 deficiency 

OOM 




#175100 
Familial adenomatous polyposis 1 (FAP1) 



M 


#614937 
Familial Cortical Myoclonus 



M 


#615999 
Familial dysalbuminemic hyperthyroxinemia 
A 





*600958 
Familial hypertropic cardiomyopathy 



M 


#227645 
Fanconi anemia, complementation group C 



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 




#274400 
Genetic Defect in Thyroid Hormonogenesis 1 




H 

#274500 
Genetic Defect in Thyroid Hormonogenesis 2A 
A 





#231070 
Gerodermia Osteodysplastica 


OCM 



#137580 
Gilles De La Tourette Syndrome 



M 


#263800 
Gitelman Syndrome 
A 





#231300 
Glaucoma 3, primary congenital, A (GLC3A) 
A 





#606824 
GlucoseGalactose 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 




%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 nonpolyposis 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 





#252500 
ICell Disease 
A 






Ichthyosis Microcephaly 
A 





#610798 
Immunodeficiency due to defect in MAPBPinteracting protein 



M 


*603485 
Infantile mitochondrial complex II/III deficiency 

OOM 




#123150 
JacksonWeiss Syndrome (JWS) 
A 





#220400 
Jervell and LangeNielsen syndrome 
A 





#205100 
Joubert Syndrome 




H 


Joubert syndrome related disorder (JSRD)/ Meckel syndrome (MKS) 




H 

#602390 
Juvenile hemochromatosis, type 2A 



M 


#256000 
Leigh Syndrome 
A 

OCM 



%125480 
Major Affective Disorder 1 
A 





#145600 
Malignant hyperthermia susceptibility 



M 


#248600 
Maple syrup urine disease 

OOM 

M 
H 

#248900 
Mast Syndrome 
A 





#600496 
MaturityOnset Diabetes of the Young, Type 3 




H 

#236700 
McKusickKaufman Syndrome 
A 





#201450 
Mediumchain deficiency of AcylCoA 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 methylmalonylCoA mutase deficiency 




H 

*251170 
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 





*174763 
Mitochondrial DNA depletion syndrome 4A 
A 





#609560 
Mitochondrial DNA depletion syndrome, Hepatocerebral form 


OCM 



+253220 
Mucopolysaccharidosis, type VII (MPS7) 


OCM 



#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 

#609549 
Nanophthalmos 2 
A 


M 


#605355 
Nemaline myopathy 5 
A 





#256100 
NephronophthisisJuvenile 




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 


#615516 
Nonsyndromic 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 
Osteoporosispseudoglioma syndrome 

OOM 




#234200 
Pantothenate kinaseassociated neurodegeneration 
A 





#168600 
Parkinson Disease 
A 





#616361 
Parkinson disease 

OOM 




#613135 
Parkinsonismdystonia, infantile (PKDYS) 

OOM 




#608804 
PelizaeusMerzbacherlike syndrome 
A 





#142680 
Periodic Fever, Familial 

OOM 




+261600 
Phenylketonuria 
A 
OOM 




#609049 
Pierson syndrome 

OOM 




#262600 
Pituitary Dwarfism III 




H 

*173360 
Plasminogen activator inhibitor1 deficiency 






*608002 
Polycystic kidney disease 
A 





#611087 
Polyhydramnios, megalencephaly and symptomatic epilepsy 

OOM 




#609033 
Posterior column ataxia with retinitis pigmentosa (AXPC1) 

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) 



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 





#253300 
Spinal Muscular Atrophy, Type 1 

OOM 




#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 





#186000 
Synpolydactyly 1 
A 





#615879 
TattonBrownRahman syndrome 
A 





#273800 
Thrombasthenia of Glanzmann and Naegeli 



M 


#274400 
Thyroid Dyshormonogenesis 1 




H 

#234050 
Trichothiodystrophy, Nonphotosensitive 1 (TTDN1) 
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 
WalkerWarburg Syndrome 

OOM 




#277600 
WeillMarchesani syndrome 
A 




