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#620674 - NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT; SCN11
Gene summaries Genetic tests Medical literature
#620670 - IMMUNODEFICIENCY, COMMON VARIABLE, 15; CVID15
#620475 - THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY; THC8
Cytogenetic locations: ##H###
#620465 - EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEO3
Cytogenetic locations: 16p13.3
#619971 - NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY; NEDEBA
Cytogenetic locations: ######
#619970 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104; DEE104
*619918 - TUBULIN, ALPHA-3E; TUBA3E
Cytogenetic locations: mutation
#619840 - MACROTHROMBOCYTOPENIA, ISOLATED, 2, AUTOSOMAL DOMINANT; MACTHC2
Cytogenetic locations: #[Fc##
#619611 - INTERSTITIAL LUNG DISEASE 1; ILD1
Cytogenetic locations: #R####
#619271 - BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24
Cytogenetic locations: between
#619267 - GLANZMANN THROMBASTHENIA 2; GT2
#619161 - CARPAL TUNNEL SYNDROME 2; CTS2
Cytogenetic locations: @##M##
#618492 - NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES; NEDMIBA
Cytogenetic locations: 0#,###
*618271 - SEC61 TRANSLOCON, ALPHA-2 SUBUNIT; SEC61A2
Cytogenetic locations: ##########@#
*618072 - ATPase, H+ TRANSPORTING, LYSOSOMAL, 38-KD, V0 SUBUNIT D, ISOFORM 2; ATP6V0D2
*618071 - ATPase, H+ TRANSPORTING, LYSOSOMAL, 13-KD, V1 SUBUNIT G, ISOFORM 3; ATP6V1G3
*618070 - ATPase, H+ TRANSPORTING, LYSOSOMAL, 42-KD, V1 SUBUNIT C, ISOFORM 2; ATP6V1C2
#618012 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93; DEE93
Cytogenetic locations: -
#617928 - KERATOCONUS 9; KTCN9
Cytogenetic locations: #P####
#617879 - LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS; LCAEOD
Cytogenetic locations: Lhx3
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