A Short List of Human X-Linked Recessive and X-Linked Dominant Traitsa

Table 3.2 A Short List of Human X-Linked Recessive and X-Linked Dominant Traitsa Disease Symptoms X-Linked Recessive Disorders Color blindness (red-green) (OMlM 303800) Color-perception deficiency Hemophilia A (OMIM 306700) Blood-clotting abnormality Anhidrotic ectodermal dysplasia (OMIM 305100) Absence of teeth, hair, and sweat glands Fragile X syndrome (OMIM 300624) Mental retardation and neurodevelopmental defects Lesch—Nyhan syndrome (OMIM 300322) Mental retardation with self-mutilation and spastic cerebral palsy Muscular dystrophy (Becker type, OMIM 300376; and Progressive muscle weakness Duchenne type, OMlM 310200) Ornithine transcarbamylase deficiency (OMIM 311250) Mental deterioration clue to ammonia accumulation with protein ingestion Retinitis pigmentosa (OMIM 300029) Night blindness, constricted visual field X-Linked Dominant Disorders Amelogenesis imperfecta (OMIM 301200) Abnormal tooth—enamel development and distribution Congenital generalized hypertrichosis (OMIM 307150) Extensive hair distribution on the face and body Hypophosphatemia (OMlM 307800) Phosphate deficiency causing rickets (bowleggedness) Rett syndrome (OMlM 312750) Mental retardation and neurodevelopmental defects aOMIM = Online Mendelian Inheritance of Man (see Chapter 2 Case Study for discussion).