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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
#620745 - DEAFNESS, AUTOSOMAL RECESSIVE 123; DFNB123
*620742 - INTRAFLAGELLAR TRANSPORT 70B; IFT70B
*620741 - INTRAFLAGELLAR TRANSPORT 70A; IFT70A
#620718 - OROFACIODIGITAL SYNDROME XX; OFD20
#620700 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81; MRT81
#620674 - NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT; SCN11
#620670 - IMMUNODEFICIENCY, COMMON VARIABLE, 15; CVID15
#620606 - SPASTIC PARAPLEGIA 72B, AUTOSOMAL RECESSIVE; SPG72B
#620601 - GARG-MISHRA PROGEROID SYNDROME; GMPGS
Cytogenetic locations: Etv1
#620534 - NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE; SCN10
Cytogenetic locations: ######
*620506 - INTRAFLAGELLAR TRANSPORT 46; IFT46
*620505 - INTRAFLAGELLAR TRANSPORT 22; IFT22
Cytogenetic locations: ############
#620454 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa; CDG2AA
*620446 - TETRASPANIN 17; TSPAN17
Cytogenetic locations: ########V##
*620436 - TRANSMEMBRANE p24 TRAFFICKING PROTEIN 9; TMED9
Cytogenetic locations: ###########
#620430 - AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3; ADMIO3
Cytogenetic locations: -
#620427 - DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS; DYT37
Cytogenetic locations: apparently
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