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#620780 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID; ARCL1D
Gene summaries Genetic tests Medical literature
#620748 - MEGALENCEPHALY-POLYDACTYLY SYNDROME; MPAPA
#620731 - MICROPHTHALMIA/COLOBOMA 11; MCOPCB11
#620729 - HYPERFERRITINEMIA; HRFT
#620715 - BLEEDING DISORDER, VASCULAR-TYPE; BDVAS
#620690 - DEVELOPMENTAL DYSPLASIA OF THE HIP 3; DDH3
#620683 - LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9; FPLD9
*620672 - LEUCINE-RICH REPEAT-CONTAINING PROTEIN 24; LRRC24
#620668 - IMMUNODEFICIENCY 117; IMD117
#620639 - OSTEOGENESIS IMPERFECTA, TYPE XXIII; OI23
#620636 - NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE; CONDCAC
#620536 - ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE; ATS3B
Cytogenetic locations: ###x##
#620532 - HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS; HIES6
Cytogenetic locations: Hnrnpa1
#620514 - IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION; IDAA
Cytogenetic locations: `#####
#620481 - AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2; CAMT2
Cytogenetic locations: KLHL24
#620478 - THROMBOCYTOPENIA 9; THC9
#620469 - CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY; CCDDRD
#620461 - ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12; IIAE12
Cytogenetic locations: ##>###
#620457 - AURICULOCONDYLAR SYNDROME 4; ARCND4
Cytogenetic locations: #J"###
#620447 - MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3; MLC3
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