Cardiac Rupture,Cerebellar Hypoplasia,Dystonia 9,Retinitis Pigmentosa,Spasticity,Polycystic Kidney Disease,Diabetes Mellitus,Cerebral Palsy,Hypertrophic Cardiomyopathy,Esotropia,Muscular Dystrophy,Congenital Disorder Of Glycosylation, Type Ie,Hyperinsulinemic Hypoglycemia,Congenital Disorder Of Deglycosylation,Carbohydrate Metabolic Disorder,Protein-Losing Enteropathy,Premature Menopause,Cerebral Atrophy,Phagocyte Bactericidal Dysfunction,Chronic Granulomatous Disease,Epidermolysis Bullosa, Junctional, Herlitz Type,Congenital Disorder Of Glycosylation, Type Ic,Alacrima, Achalasia, And Mental Retardation Syndrome,Disease Of Mental Health,Galactosemia I,Aceruloplasminemia,Granulomatous Disease, Chronic, Autosomal Recessive, 1,Granulomatous Disease, Chronic, Autosomal Recessive, 2,Granulomatous Disease, Chronic, Autosomal Recessive, 3,Walker-Warburg Syndrome,Strabismus,Immunodeficiency 47,Congenital Disorder Of Glycosylation, Type In,Congenital Disorder Of Glycosylation, Type Iid,Congenital Disorder Of Glycosylation, Type Iin,Premature Ovarian Failure 1,Congenital Disorder Of Glycosylation, Type Ia,Congenital Disorder Of Glycosylation, Type Iia,Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay

Congenital Disorder Of Glycosylation, Type Ie,Nemaline Myopathy 1,Cardiomyopathy, Dilated, 1p,Granulomatous Disease, Chronic, Autosomal Recessive, 1,Immunodeficiency 24,Congenital Disorder Of Glycosylation, Type In,Congenital Disorder Of Glycosylation, Type Ia