ectodermal dysplasia – focal dermal hypoplasia – fragile X syndrome – gonadal dysgenesis, 46,xy – gonadal dysgenesis, mixed – Klinefelter syndrome – orofaciodigital syndromes – Turner syndrome – WAGR syndrome – Williams syndrome – cystic fibrosis – dwarfism – achondroplasia – cockayne syndrome – congenital hypothyroidism – laron syndrome – mulibrey nanism – eye diseases, hereditary – albinism – albinism, ocular – albinism, oculocutaneous – Hermansky–Pudlak syndrome – piebaldism – aniridia – WAGR syndrome – choroideremia – corneal dystrophies, hereditary – Fuchs' endothelial dystrophy – Duane retraction syndrome – gyrate atrophy – optic atrophies, hereditary – optic atrophy, hereditary, leber – optic atrophy, autosomal dominant – Wolfram syndrome – retinal dysplasia – retinitis pigmentosa – Usher syndromes – familial Mediterranean fever – genetic diseases, x-linked – androgen insensitivity syndrome – choroideremia – dyskeratosis congenita – fabry disease – focal dermal hypoplasia – glycogen storage disease type IIb – glycogen storage disease type VIII – granulomatous disease, chronic – ichthyosis, x-linked – hemophilia B – mental retardation, x-linked – adrenoleukodystrophy – Coffin–Lowry syndrome – fragile X syndrome – Lesch–Nyhan syndrome – Menkes kinky hair syndrome – mucopolysaccharidosis II – pyruvate dehydrogenase complex deficiency disease – Rett syndrome – muscular dystrophy, Duchenne – muscular dystrophy, Emery–Dreifuss – oculocerebrorenal syndrome – Pelizaeus–Merzbacher disease – Wiskott–Aldrich syndrome – genetic diseases, y-linked – Hajdu–Cheney syndrome – hemoglobinopathies – anemia, sickle cell – hemoglobin sc disease – sickle cell trait – hemoglobin c disease – thalassemia – alpha-thalassemia – hydrops fetalis – beta-thalassemia – heredodegenerative disorders, nervous system – Alexander disease – amyloid neuropathies, familial – Canavan disease – Cockayne syndrome – dystonia musculorum deformans – Gerstmann–Sträussler–Scheinker disease – Hallervorden–Spatz syndrome – hepatolenticular degeneration – hereditary central nervous system demyelinating diseases – hereditary motor and sensory neuropathies – Charcot–Marie–Tooth disease – Refsum disease – spastic paraplegia, hereditary – hereditary sensory and autonomic neuropathies – dysautonomia, familial – Huntington disease – Lafora disease – Lesch–Nyhan syndrome – Menkes kinky hair syndrome – mental retardation, x-linked – adrenoleukodystrophy – Coffin–Lowry syndrome – fragile X syndrome – Lesch–Nyhan syndrome – Menkes kinky hair syndrome – mucopolysaccharidosis II – pyruvate dehydrogenase complex deficiency disease – Rett syndrome – myotonia congenita – myotonic dystrophy – neurofibromatosis – neurofibromatosis 1 – neurofibromatosis 2 – neuronal ceroid-lipofuscinosis – optic atrophies, hereditary – optic atrophy, hereditary, leber – optic atrophy, autosomal dominant – Wolfram syndrome – Rett syndrome – spinal muscular atrophies of childhood