Chromosome breakage, syndromes with increased, 63, 64, 119 



Citrullinemia, 26, 107 



Citrullinuria, 26, 107 



Cockayne syndrome, 52, 112 



Collagen, hydroxy lysine-def icient , 56 



Conradi syndrome, 52 



Coproporphyria, hereditary, 50 



Corneal dystrophy, macular type, 52 



Cornelia de Lange syndrome, 52 



Cowden disease, 126 



Cutanea tarda, 50 



Cutis laxa, 53 



Cystathionine synthase deficiency, 27, 28, 105, 108 



Cystathionuria, 107, 108 



Cystic fibrosis, 53, 112, 113 



Cystinosis, 26, 27, 105 



Debranching enzyme deficiency, 34 

 Deletion of chromosomes, 95-98 

 Diabetes mellitus, 53-55, 113, 114 

 Duchenne muscular dystrophy, 59 

 Duffy blood group, 101 

 Dysautonomia, 55, 114, 115 

 Dyskeratosis congenita, 55, 115 

 Dystonia musculorum deformans, 55, 115 



Ehler-Danlos syndrome, 56 

 EMG syndrome, 51 



Fabry disease, 40, 41, 105 



Fanconi anemia, 63, 64 



Farber lipogranulomatosis , 41 



Fetal hemoglobin, persistence of, 117 



Fructose-l,6-diphosphatase , hepatic deficiency of, 31 



Fucosidosis, 31, 32, 108 



Galactosemia, kinase deficiency, 32 



Galactosemia, transferase deficiency, 32, 33, 105, 109, 123 



Gangliosidosis, GMl , 41 



Gangliosidosis, GM2 , 42 



Gaucher disease, 41, 110 



Giant mitochondrial disease, 56 



Globoid cell sclerosis, 43 



Glomus tumor, 127 



Glucose-6-phosphate dehydrogenase deficiency and variants, 33 



Glycogen storage diseases, 33, 34, 109 



Gonadal dysgenesis, 99 



168 



