DISORDERS OF UNCERTAIN BIOCHEMICAL ETIOLOGY 



Adrenal Hyperplasia (Adrenogenital Syndrome) - Type III 

 Adrenoleukodystrophy (Addison Disease and Cerebral 



Sclerosis) 

 Agammaglobulinemia, X-Linked 

 Alzheimer Disease of Brain 

 Basal Cell Nevus Syndrome 



Beckwith-Wiedemann Syndrome ( EMG Syndrome) 

 Campomelic Dwarf 



Canavan Disease (Spongy Degeneration of the CNS) 

 Cartilage-Hair Hypoplasia (Metaphyseal Chondrodysplasia, 



McKusick Type) 

 CNS Disorder, Unclassified, Hereditary 

 Chediak-Higashi Syndrome 

 Chondrodystrophy 

 Cockayne Syndrome 



Conradi Syndrome (Chondrodysplasia Punctata) 

 Corneal Dystrophy, Macular Type 

 Cornelia de Lange Syndrome 

 Cutis Laxa 



Cystic Fibrosis (Mucoviscidosis) 

 Diabetes Mellitus 

 Dysautonomia (Riley-Day Syndrome) 

 Dyskeratosis Congenita 

 Dystonia Musculorum Deformans 

 Ehler-Danlos Syndrome 



Type I 



Type II 



Type IV 



Type VI - (Hydroxylysine-Def icient Collagen) 



Type Unclassified 

 Giant Mitochondrial Disease 

 Gouty Arthritis 

 Huntington Chorea 

 Hypophosphatasia 

 Ichthyosis Congenita 

 Incontinentia Pigmenti 

 Leigh Encephalomyelopathy 

 Lowe Oculocerebrorenal Syndrome 

 Marfan Syndrome 

 Mental Retardation, X-Linked 

 Muscular Dystrophy 



Becker Type (Progressive Tardive) 



Duchenne Type (Pseudohypertrophic Progressive) 

 Myositis Ossificans 

 Neurofibromatosis (Von Recklinghausen Disease) 



