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Adult-Onset Muscular Dystrophy with Leukoencephalopathy
Allan-Herndon-Dudley syndrome
Alpha-B Crystallinopathy with Cataract
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
Becker muscular dystrophy +
Borjeson-Forssman-Lehmann syndrome
Charcot-Marie-Tooth disease X-linked recessive 2
Charcot-Marie-Tooth disease X-linked recessive 3
Charcot-Marie-Tooth disease X-linked recessive 4
Charcot-Marie-Tooth disease X-linked recessive 5
combined oxidative phosphorylation deficiency 6
congenital disorder of glycosylation Icc
congenital disorder of glycosylation Iy
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism
congenital muscular dystrophy +
congenital nongoitrous hypothyroidism 9
congenital stationary night blindness 1A
congenital stationary night blindness 2A
developmental and epileptic encephalopathy 1
developmental and epileptic encephalopathy 8
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Duchenne muscular dystrophy + An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)
Emery-Dreifuss muscular dystrophy +
facioscapulohumeral muscular dystrophy +
Fanconi anemia complementation group B
frontometaphyseal dysplasia 1
Galloway-Mowat syndrome 2
glycogen storage disease IXa
glycogen storage disease IXd
glycogen storage disease VII
hereditary sensory neuropathy X-linked
hereditary spastic paraplegia 16
hereditary spastic paraplegia 2
hereditary spastic paraplegia 34
HRPT-related hyperuricemia
hypogonadotropic hypogonadism 1 with or without anosmia
ichthyosis follicularis-alopecia-photophobia syndrome 1
IGSF1 deficiency syndrome
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
isolated growth hormone deficiency type III
limb-girdle muscular dystrophy +
methylmalonic acidemia and homocysteinemia cblX type
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Mullegama-Klein-Martinez syndrome
multiple congenital anomalies-hypotonia-seizures syndrome 2
Muscular Dystrophy, Animal +
Muscular Dystrophy, Barnes Type
Muscular Dystrophy, Cardiac Type
Muscular Dystrophy, Mabry Type
Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries
Myofibrillar Myopathy, ZASP-Related
Myopathy with Abnormal Lipid Metabolism
MYOPATHY, SCAPULOHUMEROPERONEAL
nephrogenic syndrome of inappropriate antidiuresis
non-syndromic X-linked intellectual disability 100
non-syndromic X-linked intellectual disability 101
non-syndromic X-linked intellectual disability 103
non-syndromic X-linked intellectual disability 104
non-syndromic X-linked intellectual disability 105
non-syndromic X-linked intellectual disability 21
non-syndromic X-linked intellectual disability 30
non-syndromic X-linked intellectual disability 46
non-syndromic X-linked intellectual disability 53
non-syndromic X-linked intellectual disability 58
non-syndromic X-linked intellectual disability 72
non-syndromic X-linked intellectual disability 73
non-syndromic X-linked intellectual disability 77
non-syndromic X-linked intellectual disability 81
non-syndromic X-linked intellectual disability 82
non-syndromic X-linked intellectual disability 84
non-syndromic X-linked intellectual disability 9
non-syndromic X-linked intellectual disability 90
non-syndromic X-linked intellectual disability 92
non-syndromic X-linked intellectual disability 93
non-syndromic X-linked intellectual disability 96
non-syndromic X-linked intellectual disability 99
non-syndromic X-linked intellectual disability ARX-related
nuclear type mitochondrial complex I deficiency 12
nuclear type mitochondrial complex I deficiency 30
oculocerebrorenal syndrome +
oculopharyngeal muscular dystrophy +
Oculopharyngodistal Myopathy +
Opitz GBBB syndrome type I
orofaciodigital syndrome VIII
osteogenesis imperfecta type 19
partial androgen insensitivity syndrome
Pelizaeus-Merzbacher disease +
phosphoglycerate kinase 1 deficiency
phosphoribosylpyrophosphate synthetase superactivity
primary ovarian insufficiency 2B
Progressive Muscular Dystrophy, Pectorodorsal
Ritscher-Schinzel syndrome 2
scapuloperoneal myopathy +
severe congenital encephalopathy due to MECP2 mutation
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
spondyloepiphyseal dysplasia tarda +
syndromic X-linked intellectual disability 17
syndromic X-linked intellectual disability 5
syndromic X-linked intellectual disability Claes-Jensen type
syndromic X-linked intellectual disability Siderius type
syndromic X-linked intellectual disability Snyder type
syndromic X-linked intellectual disability Turner type
syndromic X-linked mental retardation 35
Van Esch-O'Driscoll syndrome
Wiskott-Aldrich syndrome +
X-linked Aarskog syndrome
X-linked adrenal hypoplasia congenita
X-linked agammaglobulinemia +
X-linked atrophic macular degeneration
X-linked chondrodysplasia punctata 1
X-linked chronic granulomatous disease
X-linked chronic idiopathic intestinal pseudo-obstruction
X-linked cone-rod dystrophy 3
X-linked congenital hemolytic anemia
X-linked distal spinal muscular atrophy 3
X-linked dyserythropoietic anemia
X-linked dyskeratosis congenita +
X-linked dystonia-parkinsonism
X-linked Emery-Dreifuss muscular dystrophy 1
X-linked Emery-Dreifuss muscular dystrophy 6
X-linked hyper IgM syndrome
X-Linked immunodeficiency 74
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
X-linked intellectual developmental disorder 108
X-linked intellectual disability-short stature-overweight syndrome
X-linked juvenile retinoschisis 1
X-linked keratosis follicularis spinulosa decalvans
X-linked lymphoproliferative syndrome 1
X-linked lymphoproliferative syndrome 2
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques
X-linked myopathy with excessive autophagy
X-linked nephrolithiasis type I
X-linked parkinsonism-spasticity syndrome
X-linked properdin deficiency
X-linked recessive hypophosphatemic rickets
X-linked severe combined immunodeficiency
X-linked severe congenital neutropenia
X-linked sideroblastic anemia with ataxia
X-linked spermatogenic failure 2
X-linked spinal muscular atrophy 2
X-linked spinocerebellar ataxia 1
X-linked spinocerebellar ataxia 5
X-linked spondyloepimetaphyseal dysplasia
X-linked thrombocytopenia with beta-thalassemia
X-linked VACTERL association
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