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#620532 - HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS; HIES6
Cytogenetic locations: Hnrnpa1
Gene summaries Genetic tests Medical literature
#619793 - RESTRICTIVE DERMOPATHY 2; RSDM2
Cytogenetic locations: mutation
#619752 - HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS; HIES4A
#619751 - STUVE-WIEDEMANN SYNDROME 2; STWS2
Cytogenetic locations: ##o###
#619750 - IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
#619690 - BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
Cytogenetic locations: ##@###
#619375 - AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD
Cytogenetic locations: 16p13.3
#619112 - NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 13; HMND13
Cytogenetic locations: ##8###
#619016 - IFAP SYNDROME 2; IFAP2
Cytogenetic locations: PER1
#618985 - GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT; GHISID2
#618886 - PSEUDO-TORCH SYNDROME 3; PTORCH3
#618858 - DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM4
Cytogenetic locations: 11p15.5
#618523 - HYPER-IgE SYNDROME 4B, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS; HIES4B
#618345 - RETINITIS PIGMENTOSA 85; RP85
Cytogenetic locations: pd$###
#618270 - CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3; CAKUT3
#618213 - INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE
#618060 - INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA
#617877 - SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1; SSFSC1
Cytogenetic locations: ##k###
#617746 - SWEENEY-COX SYNDROME; SWCOS
Cytogenetic locations: 609024
#617572 - EXUDATIVE VITREORETINOPATHY 7; EVR7
Cytogenetic locations: 0#####
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