OMIM # 
Disorder 
Seen In [?
A  Amish
OOM  Old Order Mennonite
OCM  Old Colony Mennonite
M  Unknown / Other Mennonite
H  Hutterite ] 
#202010 
11betahydroxylase deficiency 
A 




#201810 
3betahydroxysteroid dehydrogenase deficiency, type II 
A 




#210210 
3MethylcrotonylCoA carboxylase 2 deficiency 
A 


M 

#610198 
3Methylglutaconic Aciduria, Type V 




H 
%201550 
Adducted Thumbs Syndrome 
A 





Adenomatous polyposis of the colon 



M 

#612952 
AicardiGoutieres syndrome 5 
A 




#300600 
Aland Island Eye Disease 
A 




#606952 
Albinism, oculocutaneous, type 1B 
A 




+107400 
Alpha1 antitrypsin deficiency 

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 
#241200 
Bartter Syndrome Type 2 
A 




#607364 
Bartter Syndrome, Type 3 
A 





BeaulieuBoycottInnes Syndrome 




H 
#253260 
Biotinidase deficiency 
A 
OOM 
OCM 
M 

#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 

Cerebral vasculopathy and early onset stroke 
A 




236450 
Cerebroosteonephrodysplasia 




H 
#214400 
CharcotMarieTooth Disease, Type 4A 
A 




#211600 
Cholestasis, progressive familial intrahepatic 1 
A 




#306400 
Chronic Granulomatous Disease 
A 




%604213 
ChudleyMcCullough Syndrome 



M 

#303400 
Cleft palate with ankyloglossia 



M 

#119600 
Cleidocranial dysostosis 

OOM 



*600211 
Cleidocranial dysplasia 



M 

#221200 
Cochlear deafness, myopia, and intellectual impairment 
A 




#133540 
Cockayne Syndrome, type B 
A 
OOM 



600373 
CODAS syndrome 


OCM 


#216550 
Cohen Syndrome 
A 




#202010 
Congenital Adrenal Hyperplasia, due to 11hydroxylase deficiency 
A 




#202110 
Congenital Adrenal Hyperplasia, due to 17alphahydroxylase deficiency 



M 


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 



#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 



*612309 
Factor V Leiden heterozygosity 
A 




#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 Syndrome 
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 




*609309 
Hereditary nonpolyposis colon cancer 



M 

#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 
#147920 
Kabuki 
A 




#256000 
Leigh Syndrome 
A 

OCM 


%125480 
Major Affective Disorder 1 
A 




*180901 
Malignant hyperthermia susceptibility 



M 

#145600 
Malignant hyperthermia, susceptibility to 



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 




*17476 
Mitochondrial DNA depletion syndrome 4A 
A 




#609560 
Mitochondrial DNA depletion syndrome, Hepatocerebral form 


OCM 


%252350 
Moyamoya disease 1 
A 


M 

+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 



#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 




#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 




#277580 
WaardenburgShah Syndrome 



M 

#236670 
WalkerWarburg Syndrome 

OOM 



#277600 
WeillMarchesani syndrome 
A 




#310500 
Xlinked incomplete congenital stationary night blindness 
A 



