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#620323 - SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE; SPG70
Cytogenetic locations: 34585293
Gene summaries Genetic tests Medical literature
#620240 - DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES; DEDHMB
Cytogenetic locations: 26742501
#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: 608050
#618695 - CILIARY DYSKINESIA, PRIMARY, 42; CILD42
Cytogenetic locations: 38813877
#618663 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81; DEE81
*618515 - TRANSMEMBRANE PROTEIN 33; TMEM33
Cytogenetic locations: Osteochondrodysplasia
#618468 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76
Cytogenetic locations: 31134736
#618437 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75; DEE75
Cytogenetic locations: 602600
#617933 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 61; DEE61
Cytogenetic locations: Galnt17
#617913 - NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES; NEDMCR
Cytogenetic locations: MTSS
#616680 - SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE; SPG75
Cytogenetic locations: 24482476
*616662 - THUMP DOMAIN-CONTAINING PROTEIN 1; THUMPD1
Cytogenetic locations: 25653167
#615835 - CHROMOSOME 16 INVERSION, 0.45-MB
Cytogenetic locations: Thoc6
#615802 - NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FEATURES, SPASTICITY, AND BRAIN ABNORMALITIES; NEDDSBA
Cytogenetic locations: 25823418
#615705 - SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15
Cytogenetic locations: 32450808
#615686 - SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE; SPG63
#615685 - SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE; SPG61
Cytogenetic locations: Ubiquitin-conjugating
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