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#620240 - DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES; DEDHMB
Cytogenetic locations: 26742501
Gene summaries Genetic tests Medical literature
#619989 - NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES; NEDSOA
Cytogenetic locations: 30237576
#619446 - RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID
Cytogenetic locations: 24726755
#619351 - MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2
Cytogenetic locations: 29575632
#618808 - INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
Cytogenetic locations: 9q34.11
#618695 - CILIARY DYSKINESIA, PRIMARY, 42; CILD42
Cytogenetic locations: 606202
#618663 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81
Cytogenetic locations: 601228
#618468 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76
Cytogenetic locations: 31134736
#618437 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75; DEE75
Cytogenetic locations: 29915213
#618416 - METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION; MECREN
Cytogenetic locations: 26541337
#617933 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61; DEE61
Cytogenetic locations: 603125
#617913 - NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES; NEDMCR
Cytogenetic locations: 125860
*616662 - THUMP DOMAIN-CONTAINING PROTEIN 1; THUMPD1
Cytogenetic locations: 25653167
#615705 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15
Cytogenetic locations: 102577
#615685 - SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE; SPG61
Cytogenetic locations: 31272422
*614086 - MULTICILIATE DIFFERENTIATION AND DNA SYNTHESIS-ASSOCIATED CELL CYCLE PROTEIN; MCIDAS
*613516 - RUN DOMAIN- AND CYSTEINE-RICH DOMAIN-CONTAINING BECLIN-1-INTERACTING PROTEIN; RUBCN
*612458 - ACTIN-LIKE 6B; ACTL6B
Cytogenetic locations: 17920018
#612394 - BCARD SYNDROME; BCARD
Cytogenetic locations: 36203519
*612186 - DMX-LIKE 2; DMXL2
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