Metabolic genetic conditions 

Metabolic Genetic Conditions information and links to national and international support groups, clinics with genetic counselors and geneticists metabolic disease condition disorder genetic genomecounseling support galactosemia, PKU, maple syrup urine, neuro-metabolic, purine, lactic acidosis, pyruvate dehydrogenase deficiency, urea cycle conditions, carbohydrate deficient glycoprotein syndrome (CDGS), glutaric aciduria, G6PD favismfava beans mitochondrial, long chain 3 hydroxyacyl CoA dehydrogenase deficiency LCHADmannosidosis lysosomal storage disease, gaucher salla Niemann-Pick Tay-Sachs Fabry Farber Pompe Sandhoff Krabbe metachromatic leukodystrophy Wolman Hurler Hunter Sanfilippo I-cell Scheie cystinosis Goldberg salidosis maroteau-Lamy Hurler-Scheie Morquio pseudo-Hurler GM1 Aspartylglusomarinuria mucopolysaccharidosis Sly trimethylaminuria Fish odor syndromegene therapy support group genetics birth defect counselling inherited heredity familial geneticist clinic medical healthgene chromosome DNA genes lay advocacy organization

Facial/ craniofacial anomalies 

Craniofacial resources, clinics with genetic counselors and geneticists, links to national and international support groups craniofacial facial anomalies Apert Syndrome Chotzen Syndrome Pfeiffer Syndrome Carpenter Syndrome Crouzon Syndrome disfigurement craniofacial cleft clefting lip palate genetics genome counseling support anomaly group groups genetics genome birth defect counseling chromosome inherited heredity geneticist counselling clinic medicalgene chromosome DNA geneticist counselling genes genetic lay advocacy organization

Smith-Magenis syndrome 

Smith-Magenis Syndrome information, links to national and international support groups, clinics with genetic counselors and geneticists Smith-Magenis syndrome Smith Magenis SMSsmall missing section deletion chromosome 17 17p11.2 genetics genetic counseling medical clinical healthsupport group genome birth defect counseling chromosome inherited heredity geneticist counselling clinic medicinegene DNA genes genetic lay advocacy organization

Shwachman Syndrome 

Shwachman Shwachman-Diamond information, resources, and links to national and international support groups, clinics with genetic counselors and geneticists Shwachman-Diamond Syndrome Shwachman-Bodian Burke support group genetics genome birth defect counseling chromosome inherited heredity geneticist counselling clinic medicalmispelling schwachman shwachmann

Mucopolysaccharidosis 

Mucopolysaccharidosis conditons international support groups, clinics with genetic counselors and geneticists mucopolysaccharidosis MPS I II III IV VI VIIHurler Hunter Scheie Hurler-Scheie Morquio Maroteaux-Lamy Sanfilippo genetics genome counseling support group birth defect chromosome inherited heredity clinic medical health gene DNA geneticist counselling lay advocacy

Fanconi Anemia 

Fanconi anemia links to national and international support groups, clinics with genetic counselors and geneticists Fanconi Anemia genetics genome counseling support group birth defect counseling chromosome inherited heredity geneticist counselling clinic medical

Acoustic Neuroma 

Acoustic Neuroma, NF II information, links to national and international support groups, clinics with genetic counselors and geneticists

CHARGE Association 

CHARGE syndrome information, links to clinics, geneticists CHARGE, association, syndrome, counseling, support group genetics genome birth defect counseling chromosome inherited heredityColoboma heart anomaly choanal atresia retardation genital ear anomallies