X-linked monogenic disease

X-linked monogenic disease Show first 5 Terms

46,XX sex reversal 1 46,XX sex reversal 3 alpha thalassemia-X-linked intellectual disability syndrome amelogenesis imperfecta type 1E Charcot-Marie-Tooth disease X-linked dominant 1 ... Show All 51 Terms

46,XX sex reversal 1 46,XX sex reversal 3 alpha thalassemia-X-linked intellectual disability syndrome amelogenesis imperfecta type 1E Charcot-Marie-Tooth disease X-linked dominant 1 Charcot-Marie-Tooth disease X-linked dominant 6 CHILD syndrome Christianson syndrome chromosome Xp11.23-p11.22 duplication syndrome Coffin-Lowry syndrome congenital disorder of glycosylation type IIm congenital nystagmus 5 Cornelia de Lange syndrome 2 Cornelia de Lange syndrome 5 craniofrontonasal syndrome Danon disease deafness, dystonia, and cerebral hypomyelination developmental and epileptic encephalopathy 2 developmental and epileptic encephalopathy 9 developmental and epileptic encephalopathy 36 developmental and epileptic encephalopathy 85 female-restricted syndromic X-linked intellectual disability 99 focal dermal hypoplasia fragile X syndrome linear skin defects with multiple congenital anomalies 1 linear skin defects with multiple congenital anomalies 2 linear skin defects with multiple congenital anomalies 3 Lisch epithelial corneal dystrophy Nance-Horan syndrome neurodegeneration with brain iron accumulation 5 non-syndromic X-linked intellectual disability 1 non-syndromic X-linked intellectual disability 2 non-syndromic X-linked intellectual disability 19 non-syndromic X-linked intellectual disability 41 non-syndromic X-linked intellectual disability 63 non-syndromic X-linked intellectual disability 89 non-syndromic X-linked intellectual disability 91 non-syndromic X-linked intellectual disability 98 non-syndromic X-linked intellectual disability 107 nonphotosensitive trichothiodystrophy 5 orofaciodigital syndrome I otopalatodigital syndrome type 1 otopalatodigital syndrome type 2 primary ovarian insufficiency 2A Raynaud-Claes syndrome reducing body myopathy 1A syndromic microphthalmia 2 X-linked Alport syndrome X-linked chondrodysplasia punctata 2 X-linked dominant hypophosphatemic rickets X-linked endothelial corneal dystrophy Show first 5 Terms