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#620674 - NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT; SCN11
Gene summaries Genetic tests Medical literature
#620670 - IMMUNODEFICIENCY, COMMON VARIABLE, 15; CVID15
#620379 - SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE; SPG89
Cytogenetic locations: BCKDK
*620096 - RING FINGER PROTEIN 185; RNF185
Cytogenetic locations: 613619
*620018 - PROTEIN DISULFIDE ISOMERASE, FAMILY A, MEMBER 4; PDIA4
Cytogenetic locations: #~
*619756 - UBIQUITIN-CONJUGATING ENZYME E2 J2; UBE2J2
Cytogenetic locations: 1p36.33
#619714 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD
#619687 - DYSTONIA 33; DYT33
Cytogenetic locations: mutation
#619493 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
*619077 - HEAT-SHOCK PROTEIN FAMILY A (HSP70) MEMBER 4-LIKE PROTEIN; HSPA4L
Cytogenetic locations: -
#618878 - LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
Cytogenetic locations: 603917
#618877 - LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
#618651 - HALPERIN-BIRK SYNDROME; HLBKS
*618595 - CYTOSKELETON-ASSOCIATED PROTEIN 4; CKAP4
Cytogenetic locations: @#6###
#618392 - SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE; SEDKF
Cytogenetic locations: #W####
*618271 - SEC61 TRANSLOCON, ALPHA-2 SUBUNIT; SEC61A2
Cytogenetic locations: ##########@#
#618093 - SPINOCEREBELLAR ATAXIA 48; SCA48
#618061 - POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD6
Cytogenetic locations: ###U##
#617744 - IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH
Cytogenetic locations: #$#E##
#617527 - NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES; NDMSBA
Cytogenetic locations: `##8##
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