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#620784 - NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY; NEDOA
Gene summaries Genetic tests Medical literature
#620783 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115; DEE115
*620758 - TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 23B; TIMM23B
#620674 - NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT; SCN11
#620670 - IMMUNODEFICIENCY, COMMON VARIABLE, 15; CVID15
#620601 - GARG-MISHRA PROGEROID SYNDROME; GMPGS
Cytogenetic locations: Etv1
#620534 - NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE; SCN10
Cytogenetic locations: ######
*620446 - TETRASPANIN 17; TSPAN17
Cytogenetic locations: ########V##
#620430 - AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3; ADMIO3
Cytogenetic locations: -
#620427 - DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS; DYT37
Cytogenetic locations: apparently
#620393 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79; MRT79
Cytogenetic locations: pH#>##
#620368 - CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 3; CRMCC3
Cytogenetic locations: ##t###
#620367 - PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8; PFBMFT8
Cytogenetic locations: @#F###
#620319 - OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 17; OZEMA17
#620166 - MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES; MYOS
Cytogenetic locations: Coa3
#620106 - SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT; SPG88
Cytogenetic locations: #g####
#620072 - DIAMOND-BLACKFAN ANEMIA 21; DBA21
*620063 - DNA POLYMERASE ALPHA-2, ACCESSORY SUBUNIT; POLA2
*619842 - RHO FAMILY-INTERACTING CELL POLARIZATION REGULATOR 1; RIPOR1
Cytogenetic locations: #t####
#619793 - RESTRICTIVE DERMOPATHY 2; RSDM2
Cytogenetic locations: mutation
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