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#620565 - IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION; IMD113
Gene summaries Genetic tests Medical literature
#620475 - THROMBOCYTOPENIA 8, WITH DYSMORPHIC FEATURES AND DEVELOPMENTAL DELAY; THC8
Cytogenetic locations: ##H###
#620376 - AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS; SAIDV
Cytogenetic locations: #####
#620352 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B; DEE31B
Cytogenetic locations: #T@##
#620283 - DEAFNESS, AUTOSOMAL DOMINANT 88; DFNA88
Cytogenetic locations: 609595
#620141 - DEVELOPMENTAL DELAY, LANGUAGE IMPAIRMENT, AND OCULAR ABNORMALITIES; DEVLO
#619908 - NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES; NEDLDS
#619814 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 101; DEE101
Cytogenetic locations: #>####
#619365 - MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
Cytogenetic locations: #[K###
#619351 - MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2
#619350 - VISCERAL MYOPATHY 2; VSCM2
#618727 - ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB
Cytogenetic locations: #6####
#618587 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
#618462 - BLEEDING DISORDER, PLATELET-TYPE, 22; BDPLT22
Cytogenetic locations: C1QB
#618458 - KNOBLOCH SYNDROME 2; KNO2
Cytogenetic locations: ######
#618196 - CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2; CMAVM2
Cytogenetic locations: @#####
#618158 - INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY; IDDMSSD
#617854 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 56; MRD56
Cytogenetic locations: 602650
#617820 - NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE; NDHMSR
Cytogenetic locations: P#8Y##
#617751 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48; MRD48
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