Genetic Conditions

At The Community Health Clinic, we address a number of genetic disorders and conditions. Download a PDF of the full list here.

Disease List

AUTOSOMAL RECESSIVE

  • 2-methylbutyryl CoA dehydrogenase deficiency (2MBCD)

  • 3-methylcrotonyl CoA carboxylase deficiency (3MCC)

  • 21 hydroxylase deficiency (congenital adrenal hyperplasia (CAH)

  • Adenosine Deaminase (ADA SICD) deficiency 

  • Adenosine Deaminase 2 (ADA 2) deficiency 

  • Alpha-1 antitrypsin deficiency 

  • Alpha thalassemia

  • Amish brittle hair syndrome

  • Argininosucciate lyase (ASL) deficiency 

  • Beta ketothialase deficiency (BKT)

  • Biotinidase deficiency

  • Cartilage hair hypoplasia (CHH)

  • Cerebro-facio-thoracic Dysplasia (TMCO1)

  • Charcot-Marie-Tooth neuropathy type 4A

  • CLN 6 disease; Late Infantile Neuronal Ceroid Lipofuscinosis (rare form of Batten disease)

  • Cobalamin C defect (MMA + Homocystinuria)

  • Cockayne Syndrome (type B)

  • Combined oxidative phosphorylation deficiency-13 (COXPD13) (PNPT1)

  • Cortical dysplasia and focal epilepsy syndrome (CNTNAP2) Crigler-Najjar syndrome type 1

  • Cystic Fibrosis

  • Dubin Johnson Syndrome 

  • Galactosemia (Classical and Duarte variant)

  • Galloway Mowat Syndrome (Yoder Dystonia)

  • Gitelman syndrome

  • Glutaric aciduria 1 (GA 1)

  • Glutaric aciduria 2 (GA 2)

  • GM3 synthase deficiency

  • Friedreich Ataxia 

  • Hemochromatosis

  • Hereditary spastic paraplegia 20 (SPG20), Troyer Syndrome

  • Hereditary spastic paraplegia 21 (SPG21), Mast Syndrome 

  • Hereditary spastic paraplegia 45 (NT5C2)

  • Hypomyelinating leukodystrophy (GJC2)

  • Isobutyryl CoA dehydrogenase deficiency

  • Isovaleric Acidemia

  • Juvenile Parkinson’s Disease (ARPD-PARKN)

  • Limb Girdle Muscular Dystrophy type 2A

  • Limb Girdle Muscular Dystrophy type 2E

  • Maple syrup urine disease (MSUD)

  • Meckel Syndrome (Meckel-Gruber) 

  • Medium chain acyl CoA dehydrogenase deficiency (MCADD)

  • Mental retardation 44 (METTL23)

  • Methylmalonic acidemia, isolated (MMA)

  • Microcephalic osteodysplastic primordial dwarfism type I (MOPD1)

  • Mitochondrial depletion syndrome 12 (SLC25A4, ANT1)

  • MYH-associated polyposis. (MUTYH)

  • Non-ketotic hyperglycinemia (NKH)

  • Oculocutaneous albinism type 1B (Amish albinism)

  • Phenylalanine Hydroxylase (PAH) deficiency (PKU)

  • PMRED-SNIP1

  • Pompe Disease (GAA)

  • Pontocerebellar hypoplasia type 1 (EXOSC3)

  • Primary autosome recessive microcephaly-6 (MCPH)/Seckel syndrome 4

  • Primary Ciliary Dyskinesia (HYDIN)

  • Propionic acidemia (PCCB)

  • RAG-1 Severe Combined Immunodeficiency (SCID)

  • Retinitis. Pigmentosa 49 (CNGA1)

  • RSRC1-related disorder 

  • Sanfilippo syndrome type B (MPS III B – NAGLU)

  • Short chain acyl CoA dehydrogenase deficiency (SCADD)

  • Short Rib Thoracic Dysplasia type 4 (TTC21B)

  • Sitosterolemia (ABCG8 )

  • SMC5-related disorder (microcephalic dwarfism)

  • Spastic Ataxia 4 (MTPAP)

  • Spinal muscular atrophy 1 (SMA)

  • Systemic primary carnitine deficiency

  • TANGO2-related recurrent metabolic encephalomyopathic crises associated with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN). 

  • TMCO1 defect 

  • Trichohepatoneurodevelopmental syndrome (THNS) (CCDC47) 

  • Tripeptidyl peptidase II (TPP2) deficiency 

  • Thyroid Dyshormonogenesis 2A (TPO)

  • Ullrich Congenital Muscular Dystrophy (COL6A1)

  • Very long chain acyl CoA dehydrogenase deficiency (VLCADD)

  • Wilson disease

  • Wolfram syndrome (WFS1)

  • Zellweger Spectrum Disorder - Peroxisomal Biogenesis (PEX26)

Imprinting Disorders:

  • Beckwith-Wiedemann syndrome (BWS) (IC2 methylation defect)

  • Russell-Silver Syndrome

  • UPD 6

  • Prader-Willi Syndrome

Other (central nervous system malformation, clinical diagnosis, cancer, etc.)

  • Acute disseminated encephalomyelitis (ADEM)

  • Acute myeloid leukemia

  • Acute tic disorder

  • Alcohol Related Neurodevelopmental Disorder (ARND)

  • Addison’s disease

  • Autism Spectrum Disorder

  • Breast cancer

  • Breath holding spells

  • Carnitine deficiency

  • CHARGE syndrome

  • Chronic inflammatory Demyelinating Polyneuropathy

  • Cleft lip and/or palate 

  • Cold urticaria/periodic fever

  • Congenital CMV infection 

  • Congenital Hypothyroidism 

  • Recurrent Colon cancer

  • Endometriosis

  • Fetal Alcohol Syndrome (FAS)

  • Hemimegalencephaly

  • Hirschsprung disease

  • Hypoxic Ischemic Encephalopathy

  • In utero stroke

  • Jeavons Syndrome 

  • Klippel-Trenaunay syndrome

  • Lissencephaly

  • Microcephaly + Deafness

  • Pancreatic insufficiency

  • Paraganglioma

  • PHACE syndrome

  • Polycystic kidney disease – suspected recessive inheritance

  • Prenatal Tobacco Exposure (PTE)

  • Primary selective IgM deficiency

  • Renal oncocytosis

  • Retinitis pigmentosa

  • Sagittal craniosynostosis (isolated)

  • Schizencephaly & porencephaly

  • Severe prematurity

  • Spastic paraplegia (unknown type/gene)

  • VATER syndrome

  • Vein of Galen arteriovenous malformation

Autosomal Dominant

  • ADCY5-related Dyskinesia 

  • Apert Syndrome (FGFR2). 

  • Autosomal Dominant Polycystic Kidney Disease

  • Benign familial infantile seizures 2 (BFIS2) (PRRT2)

  • Catecholaminergic polymorphic ventricular tachycardia-1 (CPVT1)

  • Central Core Disease (RYR1 related disorder)

  • Charcot-Marie-Tooth type 1A

  • Childhood-onset epileptic encephalopathy (EEOC) (CHD2)

  • Congenital myasthenic syndrome (CMS-CHRNE)

  • Dravet Syndrome (SCN1A)

  • Dystonia 6

  • Ehlers Danlos syndrome, hypermobility type

  • Ehlers Danlos syndrome, vascular type

  • Familial hemiplegic migraines 1 (CACNA1A)

  • Familial Partial Lipodystrophy (LMNA)

  • Familial thoracic aortic aneurysms and dissections (FTAAD, MYLK)

  • FOXG1 syndrome 

  • Gorlin Syndrome (PTCH1)

  • Hereditary breast & ovarian cancer (BRCA1) 

  • Hereditary hemorrhagic telangiectasia (ENG)

  • Hereditary melanoma-pancreatic cancer syndrome (CDKN2A )

  • Hereditary pancreatitis (PRSS1) 

  • Hereditary paraganglioma pheochromocytoma type 1 (SDHA and SDHD)

  • HNF4A-related hyperinsulinism and Maturity-onset diabetes of the young 1 (MODY1)

  • Hypertrophic cardiomyopathy 4 (MYBPC3) 

  • Hypotrichosis 1

  • Kabuki Syndrome (KMT2D)

  • KBG Syndrome (ANKRD11)

  • KIF2A-related disorder, complex cortical dysplasia with other brain malformations, CDCBM3 

  • Kleefstra Syndrome (EHMT1)

  • Leri-Weill dyschondrosteosis (LWD(

  • Long QT syndrome (KCNQ1) 

  • Lymphedema-Distichiasis Syndrome (LDS, associated with FOXC2)

  • Lynch Syndrome (MSH2)

  • MAP3K7 related disorder

  • Marfan syndrome (FBN1)

  • Mental retardation 5 (SYNGAP1)

  • Mental retardation 7 (DYRK1A)

  • Mental retardation 23 (SETD5)

  • Mental retardation 26 (AUTS2)

  • Mental retardation 31 (PURA syndrome)

  • Mental retardation 46 (KCNQ5)

  • Moebius syndrome

  • Mowat Wilson Syndrome (ZEB2)

  • Myotonic dystrophy 1 (DMPK)

  • Neurofibromatosis 1

  • Osteogenesis Imperfecta, different types (COL1A1, COL1A2 )

  • Retinitis pigmentosa (NR2E3)

  • RET-related disorder (Hirschsprung disease)

  • Rubinstein-Taybi syndrome (CREBBP and EP300) 

  • SCN2A-related disorder 

  • Septooptic dysplasia

  • Sotos Syndrome 2 

  • Stickler syndrome (COL2A1)

  • Syndactyly type 1

  • Tuberous Sclerosis (TSC2)

  • White-Sutton Syndrome (POGZ gene)

mitochondrial

  • Leber Hereditary Optic Neuropathy

  • Myoclonic Epilepsy with Ragged Red Fibers (MERRF)

X-LINKED

  • Creatine Transporter Deficiency (CRTR)

  • Duchenne Muscular Dystrophy

  • Hemophilia B

  • MICPCH syndrome (CASK related disorder)

  • Ohdo Syndrome (MED12)

  • Beta-propeller protein-associated neurodegeneration (BPAN) (WDR45)

  • Oral-facial-digital syndrome

  • Partial Androgen Insensitivity syndrome (AR)

  • Steroid Sulfatase Deficiency (X-linked Ichthyosis)

  • X-linked syndromic mental retardation, Turner type (HUWE1)

Chromosomal abnormalities 

  • 1q terminal deletion syndrome

  • 1p36 deletion syndrome (mosaic)

  • 1q21.1 deletion syndrome

  • 1q43q44 deletion syndrome

  • 1q43 terminal duplication syndrome 

  • 4q partial trisomy syndrome

  • 4q12q23 duplication

  • 5p, 9q, 16p duplication syndromes (triple duplication)

  • 5p minus syndrome (Cri du chat)

  • 6q27 microdeletion syndrome 

  • 7p22.3 duplication

  • 7q11.23 microduplication syndrome

  • 9p terminal deletion syndrome

  • 10p 12.1 microdeletion syndrome 

  • 10q22.3 duplication syndrome

  • 10q24 deletion syndrome 

  • 10q partial trisomy syndrome (mosaic)

  • 14q11.2 microdeletion syndrome 

  • 15q11.2 microdeletion syndrome

  • 15q11.2 triplication/duplication (isodicentric Chr 15)

  • 16p11.2 microdeletion syndrome

  • 16p13.11 microdeletion syndrome 

  • 16q22 deletion 

  • 17q12 microdeletion

  • 18q21.32 deletion syndrome 

  • 20q13.33 duplication syndrome 

  • 22q11.2 deletion syndrome

  • Distal Chromosome 18q deletion  

  • Klinefelter syndrome (47, XXY)

  • Tetrasomy 12p, mosaic (PKS)

  • Trisomy 9 (mosaic)

  • Trisomy 13 (Patau syndrome)

  • Trisomy 21 (Down syndrome)

  • Turner Syndrome (45, X)

  • Xp11.22 duplication 

  • Xp22.32 terminal deletion (Turner-like syndrome)

  • Xp22.3 deletion 

  • Xp22.33 deletion

  • XYY syndrome 

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