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#620784 - NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY; NEDOA
Gene summaries Genetic tests Medical literature
#620783 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115; DEE115
#620779 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 82; MRT82
*620768 - RIBOSOME-BINDING FACTOR A; RBFA
#620757 - THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY; THC12
*620749 - ZINC FINGER PROTEIN 438; ZNF438
#620748 - MEGALENCEPHALY-POLYDACTYLY SYNDROME; MPAPA
#620722 - DEAFNESS, AUTOSOMAL DOMINANT 90; DFNA90
*620720 - ZINC FINGER PROTEIN 549; ZNF549
#620718 - OROFACIODIGITAL SYNDROME XX; OFD20
#620712 - POLYDACTYLY-MACROCEPHALY SYNDROME; PDMCS
#620711 - LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED; LENCEP
#620705 - SPERMATOGENIC FAILURE 89; SPGF89
#620704 - ENCEPHALOPATHY, PORPHYRIA-RELATED; ENCEP
#620700 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81; MRT81
*620695 - NOTOCHORD HOMEOBOX; NOTO
*620693 - ASTEROID HOMOLOG 1; ASTE1
*620691 - BUD13 HOMOLOG; BUD13
#620690 - DEVELOPMENTAL DYSPLASIA OF THE HIP 3; DDH3
#620688 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 74; MRD74
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