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#620748 - MEGALENCEPHALY-POLYDACTYLY SYNDROME; MPAPA
Gene summaries Genetic tests Medical literature
#620731 - MICROPHTHALMIA/COLOBOMA 11; MCOPCB11
#620668 - IMMUNODEFICIENCY 117; IMD117
#620632 - IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION; IMD115
#620610 - OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 21; OZEMA21
#620602 - LYMPHATIC MALFORMATION 14; LMPHM14
#620568 - CORNELIA DE LANGE SYNDROME 6; CDLS6
#620558 - CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA; CMDOH
Cytogenetic locations: Kif7
#620532 - HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS; HIES6
Cytogenetic locations: Hnrnpa1
#620512 - SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT; SPG18A
Cytogenetic locations: P#####
*620474 - ADIPOGENESIS-ASSOCIATED MTH938 DOMAIN-CONTAINING PROTEIN; AAMDC
Cytogenetic locations: Mir139
#620469 - CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY; CCDDRD
#620450 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73; MRD73
Cytogenetic locations: 602905
#620443 - DISABLING PANSCLEROTIC MORPHEA OF CHILDHOOD; DPMC
Cytogenetic locations: #-#l##
*620405 - CYSTEINE- AND SERINE-RICH NUCLEAR PROTEIN 3; CSRNP3
Cytogenetic locations: @#pc##
*620404 - CYSTEINE- AND SERINE-RICH NUCLEAR PROTEIN 2; CSRNP2
Cytogenetic locations: `6#l##
#620402 - NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 9; HMNR9
Cytogenetic locations: #^####
*620390 - HEAT REPEAT-CONTAINING PROTEIN 1; HEATR1
*620341 - WD REPEAT-CONTAINING PROTEIN 75; WDR75
Cytogenetic locations: ########1(##
#620323 - SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE; SPG70
Cytogenetic locations: 606634
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