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#620755 - GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12; GEFSP12
Gene summaries Genetic tests Medical literature
#620745 - DEAFNESS, AUTOSOMAL RECESSIVE 123; DFNB123
#620732 - NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES; NEDMSB
#620731 - MICROPHTHALMIA/COLOBOMA 11; MCOPCB11
#620729 - HYPERFERRITINEMIA; HRFT
#620718 - OROFACIODIGITAL SYNDROME XX; OFD20
#620690 - DEVELOPMENTAL DYSPLASIA OF THE HIP 3; DDH3
*620678 - RAS AND RAB INTERACTOR-LIKE PROTEIN; RINL
*620677 - TRANSMEMBRANE PROTEIN 192; TMEM192
*620673 - MICROTUBULE-ASSOCIATED PROTEIN 1, LIGHT CHAIN 3, BETA-2; MAP1LC3B2
#620669 - NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9; NBIA9
#620654 - THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES; THC11
#620609 - LONG-OLSEN-DISTELMAIER SYNDROME; LNGODS
*620608 - TESTIS-EXPRESSED GENE 264; TEX264
*620582 - CHROMOSOME 1 OPEN READING FRAME 210; C1ORF210
Cytogenetic locations: ########G##
#620565 - IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION; IMD113
*620562 - DENN DOMAIN-CONTAINING PROTEIN 6B; DENND6B
Cytogenetic locations: ######
*620561 - DENN DOMAIN-CONTAINING PROTEIN 6A; DENND6A
Cytogenetic locations: #^".##
#620558 - CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA; CMDOH
Cytogenetic locations: p#r###
*620557 - IQ MOTIF- AND UBIQUITIN DOMAIN-CONTAINING PROTEIN; IQUB
Cytogenetic locations: P##Z##
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