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#620763 - CORNEAL DYSTROPHY, LISCH EPITHELIAL; LECD
Gene summaries Genetic tests Medical literature
#620465 - EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEO3
Cytogenetic locations: 16p13.3
#620151 - WOLMAN DISEASE; WOLD
#619971 - NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY; NEDEBA
Cytogenetic locations: ######
#619970 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104; DEE104
#619858 - AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME; AIPCS
#619548 - USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
#619491 - PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO; PARK24
Cytogenetic locations: 609875
#619467 - USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
*618837 - LYSOSOME-ASSOCIATED PROTEIN, TRANSMEMBRANE 4, ALPHA; LAPTM4A
Cytogenetic locations: 2p24.2
#618808 - INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
Cytogenetic locations: #vg###
#618144 - USHER SYNDROME, TYPE IV; USH4
Cytogenetic locations: fusion
*618072 - ATPase, H+ TRANSPORTING, LYSOSOMAL, 38-KD, V0 SUBUNIT D, ISOFORM 2; ATP6V0D2
#617854 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 56; MRD56
Cytogenetic locations: 602650
#617276 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 48; DEE48
Cytogenetic locations: #}####
#617050 - HERMANSKY-PUDLAK SYNDROME 10; HPS10
#616969 - DEAFNESS, AUTOSOMAL DOMINANT 66; DFNA66
Cytogenetic locations: ##pD##
#616544 - RETINITIS PIGMENTOSA 73; RP73
Cytogenetic locations: 0P####
#616491 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V; CMT2V
Cytogenetic locations: P##l##
#616170 - MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT; CCMD
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