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#620240 - DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES; DEDHMB
Cytogenetic locations: 614533
Gene summaries Genetic tests Medical literature
#619446 - RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID
Cytogenetic locations: FJX1
#619351 - MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2
Cytogenetic locations: 16p13.3
#618808 - INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
Cytogenetic locations: 30237576
#618695 - CILIARY DYSKINESIA, PRIMARY, 42; CILD42
Cytogenetic locations: 38813877
#617913 - NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES; NEDMCR
Cytogenetic locations: 27878435
#615685 - SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE; SPG61
Cytogenetic locations: 31272422
*613516 - RUN DOMAIN- AND CYSTEINE-RICH DOMAIN-CONTAINING BECLIN-1-INTERACTING PROTEIN; RUBCN
Cytogenetic locations: 19270693
*612458 - ACTIN-LIKE 6B; ACTL6B
Cytogenetic locations: 17920018
*612186 - DMX-LIKE 2; DMXL2
Cytogenetic locations: 33715530
*612036 - PROLYL-tRNA SYNTHETASE 2; PARS2
Cytogenetic locations: 29915213
*607669 - ADP-RIBOSYLATION FACTOR-LIKE GTPase 6-INTERACTING PROTEIN 1; ARL6IP1
Cytogenetic locations: 611140
*605300 - SH2B ADAPTOR PROTEIN 2; SH2B2
Cytogenetic locations: 19233773
*603066 - PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE 3; PLOD3
Cytogenetic locations: 36203519
*602580 - GOLGIN A2; GOLGA2
Cytogenetic locations: 607795
*600047 - ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 2; ABCA2
Cytogenetic locations: 17488728
*160745 - MYOSIN, HEAVY CHAIN 11, SMOOTH MUSCLE; MYH11
MYH11/CBFB FUSION GENE, INCLUDED
Cytogenetic locations: 607904
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