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#620774 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114; DEE114
Gene summaries Genetic tests Medical literature
#620772 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113; DEE113
#620755 - GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12; GEFSP12
#620745 - DEAFNESS, AUTOSOMAL RECESSIVE 123; DFNB123
#620732 - NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES; NEDMSB
#620669 - NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9; NBIA9
#620654 - THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES; THC11
*620608 - TESTIS-EXPRESSED GENE 264; TEX264
#620565 - IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION; IMD113
*620557 - IQ MOTIF- AND UBIQUITIN DOMAIN-CONTAINING PROTEIN; IQUB
Cytogenetic locations: P#####
#620540 - DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY; DEVEP
Cytogenetic locations: q#m##
#620538 - SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA; SPG91
#620528 - NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11; HMND11
Cytogenetic locations: p##;##
#620502 - NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES; NEDLC
Cytogenetic locations: ##V###
#620500 - SPERMATOGENIC FAILURE 87; SPGF87
Cytogenetic locations: ######
#620490 - SPERMATOGENIC FAILURE 85; SPGF85
#620484 - THROMBOCYTOPENIA 10; THC10
Cytogenetic locations: 605420
#620465 - EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEO3
Cytogenetic locations: 16p13.3
#620411 - PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, 2; EPPK2
Cytogenetic locations: 611667
*620387 - TBC1 DOMAIN FAMILY, MEMBER 21; TBC1D21
Cytogenetic locations: ##7###
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