Diseases & Mutations
The human genome is massive, including 3 billion nucleotide base pairs, and approximately 20,000 genes. Most of these genes contain instructions for producing proteins that determine how our bodies function.
Genetic disease occurs when there is a permanent alteration in the DNA sequence that makes up a gene. Simply put, mutations in genes can cause a variety of disorders. There are many different types of mutations that can cause disease.
View the list below with genetic conditions we've seen or researched at the Clinic.
Hyperinsulinemic hypoglycemia of infancy
ABCC8 c.2995 C>T — Amish
Sitosterolemia
ABCG8 c.1720G>A — Amish
Medium-chain acyl-CoA dehydrogenase deficiency
ACADM c.985A>G — Mennonite
ACADM IVS4-30A>G — Mennonite
ACADM c.199T>C - Amish
Very long-chain acyl-CoA dehydrogenase deficiency
ACADVL c.848T>C — Indiana Amish
Adenosine deaminase deficiency
ADA c.646G>A — Amish
Weil-Marchesani syndrome
ADAMTS10 17,346 bp deletion — Amish
Microcornea with myopic chorioretinal atrophy and telecanthus
ADAMTS18 c.2397C>G — Amish
Aicardi-Goutieres syndrome 6
ADAR c.577C>G — Mennonite
ADAR c.296dupT — Mennonite
Reticular dysgenesis
AK2 c.622T>C — Western Pennsylvania Amish
Hereditary fructose intolerance
ALDOB c.448G>C — Mennonite
Vitamin B12 deficiency
AMN 43 bp deletion — Mennonite
Non-syndromic mental retardation
ANAPC7 8054 bp deletion — Amish
Torkelson syndrome
APOA4 c.552_749dup — Mennonite
Familial hypercholesterolemia
APOB c.10580G>A — Amish
Androgen insensitivity syndrome
AR c.2599G>A — Indiana Amish
Variant ataxia-telangiectasia (atypical)
ATM c.1229T>C — Mennonite
ATM c.5071A>C — Mennonite
Byler disease
ATP8B1 c.923G>T — Amish
Familial hypercholanemia
BAAT c.226A>G — Amish
Bardet-Biedl syndrome
BBS1 c.1169T>G — Amish
Maple syrup urine disease
BCKDHA c.1312T>A — Mennonite
Lethal neonatal rigidity and multifocal epilepsy
BRAT1 c.638_639insA — Amish
Susceptibility to familial breast and ovarian cancer
BRCA2 c.5073dupA — Amish
Biotinidase deficiency
BTD c.1330G>C — Amish
BTD c.1368A>C — Amish
BTD c.1459T>C — Mennonite
Glutaric aciduria, type 3
C7orf10 c.895C>T — Amish
Timothy syndrome
CACNA1C c.1216G>A — Amish
X-linked cone-rod dystrophy
CACNA1F c.3166dupC
Idiopathic generalized epilepsy
CACNA1G c.6188_6189delCT — Amish
Limb-girdle muscular dystrophy, type 2A
CAPN3 c.2306G>A — Amish
Primary microcephaly 6
CENPJ c.40C>T — Indiana Amish
CENPJ c.1078-2A>T — Amish
CENPJ c.3982A>T — Amish
Woolly hair, liver dysfunction, pruritus, dysmorphic features, and global developmental
CCDC47 c.1145delT — Indiana Amish
Properdin deficiency
CFP c.379T>G — Mennonite
Cystic fibrosis
CFTR c.1521_1523delCTT — General
Multiple pterygium syndrome, Escobar variant
CHRNG c.459_460insA — Amish
Spondyloepiphyseal dysplasia and humerospinal dysostosis
CHST3 c.1298C>T — Amish
Bartter syndrome
CLCNKB 22,508 bp deletion — Amish
Neuronal ceroid lipofuscinosis 6
CLN6 c.358_366delTTCATCATG — Indiana Amish
Achromotopsia
CNGA3 c.1126G>A — Mennonite
Cortical dysplasia and focal epilepsy
CNTNAP2 c.3709delG — Amish
Knobloch syndrome
COL18A1 c.4054_4055delCT — Amish
Osteogenesis imperfecta
COL1A2 c.2098G>T — Amish
Non-syndromic mental retardation
CRADD c.382G>C
Chronic granulomatous disease
CYBB c.1222G>A — Amish
CYBB c.1335C>A — Amish
11-beta-hydroxylase deficiency
CYP11B1 c.1343G>A — Amish
Aldosterone deficiency
CYP11B2 5 bp deletion — Amish
Spastic paraplegia 56
CYP2U1 c.1206_1207delAG — Mennonite
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
CYP21A2 c.518T>A — Amish
Infantile hypercalcemia
CYP24A1 c.428_430delAAG — Amish
Familial focal epilepsy with variable foci
DEPDC5 c.1453C>T — Mennonite
Duchenne muscular dystrophy
DMD c.5972delT — Amish
DMD c.5353C>T — Mennonite
Myotonic dystrophy-1
DMPK (CTG)n repeat expansion — Amish
Ciliary dyskinesia, primary, 18
DNAAF5 c.2374C>T — Mennonite
Primary ciliary dyskinesia
DNAH5 c.4348C>T — Amish
Dilated cardiomyopathy with arrhythmia
DSP c.699G>A — Amish
Hirschsprung disease
EDNRB c.828G>T — Mennonite
Inflammatory skin and bowel disease, neonatal, 2
EGFR c.560-2_565delAGGCCAAA — Mennonite
Intellectual disability
ELP2 c.1580G>A — Amish
Cockayne syndrome
ERCC6 IVS14+1G>T — Amish
Ellis-van Creveld syndrome
EVC IVS13+5G>T — Amish
Multiple exostoses, type 1
EXT1 c.1818G>A — Amish
Factor 11 deficiency
F11 c.1327C>T — Mennonite
Factor 5 deficiency
F5 c.1601G>A — Amish and Mennonite
Hemophilia B
F9 c.1025C>T — Amish
Marfan syndrome
FBN1 c.3704delC— Amish
Apert syndrome
FGFR2 c.758C>G — Amish
Pfeiffer syndrome
FGFR2 c.799T>C — Amish
Thanatophoric dysplasia
FGFR3 c.742C>T — Amish and Mennonite
Muenke syndrome
FGFR3 c.749C>G — Amish
Posterior column ataxia and retinitis pigmentosa
FLVCR1 c.361A>G — Mennonite
Fragile X syndrome
FMR1 (CGG)n expansion — Mennonite
Glycogen storage disease II
GAA c.2238G>C — Mennonite
Galactosemia
GALT c.563A>G — Amish
GALT c.940A>G — Amish
Glutaric aciduria, type 1
GCDH c.1262C>T — Amish
Charcot-Marie-Tooth disease
GDAP1 c.692C>T — Amish
Non-syndromic deafness
GJB2 c.35delG — Amish and Mennonite
GJB2 c.101T>C — General
Hypomyelinating leukodystrophy
GJC2 c.203A>G — Amish
GM1-gangliosidosis
GLB1 c.902C>T — Amish
Non-ketotic hyperglycinemia
GLDC c.128delA — Amish
GLDC c.2186delC — Amish
Mucolipidosis II alpha/beta
GNPTAB c.732_733delAA — Mennonite
Usher-like syndrome
HARS c.1361A>C — Amish
Non-syndromic intellectual disability, autism, and gait disturbance
HERC2 c.1781C>T
Hereditary hemochromatosis
HFE c.187C>G — Amish
HFE c.845G>A — Amish
Tyrosinemia, type 3
HPD c.1005C>G — Mennonite
HPD c.479A>G — Mennonite
HPD c.85G>A — Mennonite
3-β-OH-steroid dehydrogenase deficiency
HSD3B2 c.35G>A — Amish
Mental retardation, X-linked syndromic, Turner type
HUWE1 c.12389G>A — Amish
Orofacial clefting
HYAL2 c.443A>G — Indiana Amish
Endocrine-cerebro-osteodysplasia
ICK c.815G>A — Ontario Amish
Severe combined immune deficiency
IL7R c.2T>G — Mennonite
ITCH deficiency
ITCH c.394_395insA — Amish
Psychomotor delay and intractable seizures
JKAMP c.243_244dupG — Mennonite
Long QT syndrome 2
KCNH2 c.1897A>C — Amish
Bipolar spectrum disorder, susceptibility to
KCNH7 c.1181G>A — Amish and Mennonite
Macrocephaly, neurodevelopmental delay, and seizures
KPTN c.776C>A — Amish
Cerebral cavernous malformations
KRIT1 c.47G>C — Mennonite
Poretti-Boltshauser syndrome
LAMA1 c.8556+1G>A — Amish
Pierson syndrome
LAMB2 c.440A>G — Mennonite
Dilated cardiomyopathy with AV block
LMNA c.568C>T — Amish
CODAS syndrome
LONP1 c.2161C>G — Amish
Osteoporosis-pseudoglioma syndrome
LRP5 c.1225A>G — Mennonite
LRP5 c.1275G>A — Mennonite
Autosomal recessive deafness-63
LRTOMT c.95_108delGGACCATGTCCCCT — Mennonite
3-methylcrotonylglycinuria
MCCC2 c.295G>C — Amish
MCCC2 c.518insT — Mennonite
MCCC2 c.687A>C — Mennonite
Mental retardation, autosomal recessive 44
METTL23 c.350_352delCAC — Mennonite
McKusick-Kauffman syndrome
MKKS [c.250C>T + c.724G>T] — Amish
Methylmalonic aciduria and homocystinuria, cblC type
MMACHC c.271insA — Amish
Trichothiodystrophy, nonphotosensitive 1
MPLKIP c.430A>G — Amish
Homocystinuria
MTHFR c.1129C>T — Amish
Spastic ataxia
MTPAP c.1432A>G — Amish
Mevalonate kinase deficiency
MVK c.1174G>A — Mennonite
MVK c.803T>C — Mennonite
Cardiomyopathy (dilated, hypertrophic, severe neonatal) and left ventricular non-compaction
MYBPC3 c.3330+2T>G — Amish
Gray platelet syndrome
NBEAL2 c.881C>G
Leigh syndrome
NDUFA12 c.178C>T — Mennonite
Deafness
NIN c.4756C>T — Amish
Proximal symphalangism 1A
NOG c.122T>A — Amish
Congenital nephrotic syndrome
NPHS1 c.1481delC — Mennonite
NPHS1 c.3250delG — Mennonite
Nephrotic syndrome
NPHS2 c.413G>A — Amish
Familial focal epilepsy and focal cortical dysplasia
NPRL3 c.349delG — Mennonite
Congenital insensitivity to pain with anhidrosis
NTRK1 IVS12+1G>A — Mennonite
Albinism, oculocutaneous, type II
OCA2 c.823A>G — Mennonite
OCA2 c.2433G>T — Mennonite
Lowe syndrome
OCRL c.1621G>T — General
X-linked mental retardation-106
OGT c.1970C>T — Amish
Ornithine transcarbamylase deficiency
OTC c.422G>A — Amish
Osteogenesis imperfecta, type VIII
P3H1 c.1460C>T — Mennonite
Phenylketonuria
PAH c.283_285delATC — Amish
PAH c.782G>A — Amish
PAH c.782G>A — Mennonite
PAH IVS10-11G>A — Mennonite
PAH IVS12+1G>A — Mennonite
Parkinson disease, juvenile, type 2
PARK2 c.101_102delAG — Indiana Amish
Propionic acidemia
PCCB c.1606A>G — Amish and Mennonite
Prolidase deficiency
PEPD c.793C>T — Amish
Zellweger syndrome
PEX26 c.292C>T — Indiana Amish
Polycystic kidney disease
PKD1 c.12138+2T>C — Amish
Pyruvate kinase deficiency
PKLR c.1436G>A — Amish
Charcot-Marie-Tooth disease, type 4F
PRX c.2145T>A — Mennonite
Glycogen storage disease, type 6
PYGL IVS13+1G>A — Mennonite
Severe combined immune deficiency
RAG1 c.2974A>G — Amish
Omenn syndrome
RAG1 c.527G>T — Mennonite
Retinoblastoma
RB1 c.1981C>T — Mennonite
Cartilage-hair hypoplasia
RMRP c.70A>G — Amish
Microcephalic osteodysplastic primordial dwarfism, type 1
RNU4ATAC 51G>A — Amish
Cerebral vasculopathy and early onset stroke
SAMHD1 c.1411-2A>G — Ohio Amish
Epilepsy, generalized, with febrile seizures plus, type 1
SCN1B c.350G>A — Mennonite
SCN1B c.305_313delAGGATCTGT — Mennonite
Alpha-1 antitrypsin deficiency
SERPINA1 c.1096G>A — Amish and Mennonite
Limb-girdle muscular dystrophy
SGCB c.271C>T — Amish
SGCB c.452C>G — Amish
Charcot-Marie-Tooth disease type 4C
SH3TC2 c.2860C>T — Mennonite
Gittelman syndrome
SLC12A3 8,627 bp deletion — Amish
SLC12A3 c.1924C>G — Amish
Salla disease
SLC17A5 c.115C>T — Mennonite
Amish microcephaly
SLC25A19 c.530G>C — Amish
Hypertrophic cardiomyopathy
SLC25A4 c.523delC — Mennonite
Diastrophic dysplasia
SLC26A2 c.835C>T — Mennonite
Cystinuria
SLC3A1 c.1354C>T — Mennonite
SLC3A1 IVS6+2T>C — Mennonite
Glucose–galactose malabsorption
SLC5A1 c.1673G>A — Amish
Infantile parkinsonism-dystonia syndrome
SLC6A3 [c.1408T>A + c.1409A>G] — Amish
SLC6A3 IVS9+1G>A — Mennonite
Cystinuria
SLC7A9 c.1166C>T — Mennonite
SLC7A9 c.201C>T — Mennonite
Autosomal recessive deafness
SLITRK6 c.1240C>T — Amish
Kleefstra syndrome phenotypic spectrum
SMARCB1 c.110G>A — Mennonite
Non-syndromic mental retardation
SMG8 c.1832G>A — Amish
Spinal muscular atrophy
SMN1 exon 7 deletion — Mennonite
Symptomatic epilepsy and skull dysplasia
SNIP1 c.1097A>G
Prader-Willi syndrome
SNRPN hypermethylation — Amish and Mennonite
Troyer syndrome
SPG20 c.1110delA — Amish
Mast syndrome
SPG21 c.601_602insA — Amish
Hereditary spherocytosis/elliptocytosis
SPTA1 c.6154delG – Mennonite
GM3 synthase deficiency
ST3GAL5 c.694C>T — Amish
STRADA deficiency
STRADA 7 kb deletion — Mennonite
Glutaric aciduria, type 3
SUGCT c.895C>T — Amish
Spinocerebellar ataxia type 8
SYNE1 c.17905C>T — Amish
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
TANGO2 22.6 kb deletion — Mennonite
Holt-Oram syndrome
TBX5 c.474dupC — Amish
Aplastic anemia and pulmonary fibrosis
TERT c.1710G>C — Mennonite
Tyrosine hydroxylase deficiency
TH c.698G>A — Mennonite
Primary torsion dystonia
THAP1 c.134_135insGGGTT; c.137_139delAAC — Amish
Familial hypercholanemia
TJP2 c.143T>C — Amish
TMCO1 defect syndrome
TMCO1 c.139_140delAG — Amish
Familial periodic fever
TNFRSF1A c.362G>A — Mennonite
Nemaline rod myopathy
TNNT1 c.505G>T — Amish
Torsion dystonia
TOR1A c.907_909delGAG — Mennonite
Sudden infant death with dysgenesis of the testes
TSPYL1 c.457_458insG — Amish
Microcephaly with chorioretinopathy
TUBGCP6 c.5458T>G — Mennonite
Oculocutaneous albinism type IB
TYR c.1217C>T — Amish
Angelman syndrome
UBE3A c.2327A>C — Somerset Amish
Crigler-Najjar syndrome
UGT1A1 c.222C>A — Amish and Mennonite
Cohen syndrome
VPS13B c.9260dupT — Ohio Amish
Nephrocerebellar syndrome
WDR73 c.888delT — Amish
Wolfram syndrome
WFS1 c.2015T>C —Indiana Amish
Failure to thrive, developmental delay, liver dysfunction, and abnormal subcortical white matter
YARS c.499C>A — Amish
Spastic paraplegia-15
ZFYVE26 c.4114_4115insGAAGGGC — Amish
Restrictive dermopathy
ZMPSTE24 c.54_55insT — Mennonite
Help us to continue to provide patients with timely, affordable and effective care!
Our clinic serves as a trusted medical home for families working to prevent and treat genetic illness in their children. Serving predominantly Amish and Mennonite families, the sturdy, timber-framed building was "raised" by the hands of those in the Anabaptist community outside of Strasburg, PA. Inside the clinic is filled with an array of high-tech gene sequencing that allows us to deliver state of the art care in a nurturing environment.