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#620757 - THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY; THC12
Gene summaries Genetic tests Medical literature
#620718 - OROFACIODIGITAL SYNDROME XX; OFD20
#620688 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74; MRD74
#620679 - LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8; FPLD8
#620674 - NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT; SCN11
#620670 - IMMUNODEFICIENCY, COMMON VARIABLE, 15; CVID15
#620601 - GARG-MISHRA PROGEROID SYNDROME; GMPGS
Cytogenetic locations: Etv1
#620558 - CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA; CMDOH
Cytogenetic locations: Kif7
#620546 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb; CDG2BB
Cytogenetic locations: ## ###
#620545 - ARTHROGRYPOSIS, DISTAL, TYPE 12; DA12
Cytogenetic locations: MIR125B1
#620540 - DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY; DEVEP
Cytogenetic locations: q#m##
#620538 - SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA; SPG91
#620534 - NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE; SCN10
Cytogenetic locations: ######
#620528 - NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11; HMND11
Cytogenetic locations: p##;##
#620501 - ZIEGLER-HUANG SYNDROME; ZHS
Cytogenetic locations: #####
#620475 - THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY; THC8
Cytogenetic locations: ##H###
#620455 - NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES; NEDHSS
#620454 - CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa; CDG2AA
*620437 - TRANSMEMBRANE p24 TRAFFICKING PROTEIN 3; TMED3
Cytogenetic locations: #########At#
*620436 - TRANSMEMBRANE p24 TRAFFICKING PROTEIN 9; TMED9
Cytogenetic locations: ###########
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