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#620558 - CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA; CMDOH
Cytogenetic locations: Kif7
Gene summaries Genetic tests Medical literature
#620019 - ARTHROGRYPOSIS, DISTAL, TYPE 11; DA11
Cytogenetic locations: #n{###
#619816 - EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE; JEB5A
#619690 - BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
Cytogenetic locations: ##@###
#619657 - CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8
Cytogenetic locations: pb#x##
#619656 - LOEYS-DIETZ SYNDROME 6; LDS6
Cytogenetic locations: 0^#d##
#619475 - DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
Cytogenetic locations: ######
#619271 - BLEEDING DISORDER, PLATELET-TYPE, 24; BDPLT24
Cytogenetic locations: between
#619267 - GLANZMANN THROMBASTHENIA 2; GT2
#619120 - COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2
#619087 - NOONAN SYNDROME 13; NS13
Cytogenetic locations: 0#{}##
#618727 - ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB
Cytogenetic locations: #6####
#618458 - KNOBLOCH SYNDROME 2; KNO2
#618426 - ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9; IIAE9
Cytogenetic locations: Lethal
#618333 - MENKE-HENNEKAM SYNDROME 2; MKHK2
Cytogenetic locations: 113508
#618332 - MENKE-HENNEKAM SYNDROME 1; MKHK1
Cytogenetic locations: 611002
#618213 - INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE
#618165 - BONE MARROW FAILURE SYNDROME 5; BMFS5
#617821 - EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2; EDSARTH2
Cytogenetic locations: ###Y##
#617751 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48; MRD48
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