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#620774 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114; DEE114
Gene summaries Genetic tests Medical literature
#620755 - GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12; GEFSP12
#620745 - DEAFNESS, AUTOSOMAL RECESSIVE 123; DFNB123
#620352 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B; DEE31B
Cytogenetic locations: #T@##
#620065 - DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS; DEDBANP
Cytogenetic locations: Carm1
*619659 - SYNAPTOSOME-ASSOCIATED PROTEIN 47; SNAP47
Cytogenetic locations: ######
#619461 - MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B
Cytogenetic locations: po#;##
#619446 - RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID
#619445 - DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12
Cytogenetic locations: ###Q##
*619305 - TANDEM C2 DOMAINS PROTEIN, NUCLEAR; TC2N
Cytogenetic locations: 0#####
#618970 - CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS
Cytogenetic locations: ###?##
#618830 - AUTISM, SUSCEPTIBILITY TO, 20; AUTS20
Cytogenetic locations: #_####
#618760 - NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
#618218 - BAKER-GORDON SYNDROME; BAGOS
Cytogenetic locations: ##,###
#618049 - PARKINSONISM-DYSTONIA 2, INFANTILE-ONSET; PKDYS2
#617976 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 63; DEE63
Cytogenetic locations: BDH1
#617389 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53; DEE53
Cytogenetic locations: pX####
#617106 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42; DEE42
Cytogenetic locations: 614585
#617050 - HERMANSKY-PUDLAK SYNDROME 10; HPS10
*616440 - SOLUTE CARRIER FAMILY 32 (GABA VESICULAR TRANSPORTER), MEMBER 1; SLC32A1
Cytogenetic locations: 610608
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