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#620745 - DEAFNESS, AUTOSOMAL RECESSIVE 123; DFNB123
Gene summaries Genetic tests Medical literature
#620674 - NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT; SCN11
#620670 - IMMUNODEFICIENCY, COMMON VARIABLE, 15; CVID15
#620071 - BIRK-AHARONI SYNDROME; BKAH
Cytogenetic locations: #1q}##
#620038 - NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE; NEDMHAL
#619354 - DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
Cytogenetic locations: assignment
#619339 - BARTSOCAS-PAPAS SYNDROME 2; BPS2
Cytogenetic locations: 138250
#619175 - PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
Cytogenetic locations: 0#w\##
*618271 - SEC61 TRANSLOCON, ALPHA-2 SUBUNIT; SEC61A2
Cytogenetic locations: ##########@#
#618204 - IMMUNODEFICIENCY 15A; IMD15A
Cytogenetic locations: 615215
*617858 - PROTEASOME INHIBITOR SUBUNIT 1; PSMF1
Cytogenetic locations: -
*617857 - PROTEASOME 26S SUBUNIT, NON-ATPase, 6; PSMD6
Cytogenetic locations: 620561
*617844 - PROTEASOME 26S SUBUNIT, NON-ATPase, 8; PSMD8
Cytogenetic locations: ############
*617842 - PROTEASOME 26S SUBUNIT, NON-ATPase, 1; PSMD1
Cytogenetic locations: #########FV#
*617841 - PROTEASOME SUBUNIT, ALPHA-TYPE, 8; PSMA8
Cytogenetic locations: Cetn1
*617676 - PROTEASOME 26S SUBUNIT, NON-ATPase, 3; PSMD3
Cytogenetic locations: ########b,##
#617591 - PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3; PRAAS3
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3, DIGENIC, INCLUDED
Cytogenetic locations: with, fused
#617516 - STANKIEWICZ-ISIDOR SYNDROME; STISS
#617056 - TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5; ADTKD5
#615592 - IMMUNODEFICIENCY 15B; IMD15B
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