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#620449 - IMMUNODEFICIENCY 112; IMD112
Cytogenetic locations: #####
Gene summaries Genetic tests Medical literature
#620376 - AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS; SAIDV
#620232 - JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA; JCOSL
#620111 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J; CMT1J
Cytogenetic locations: #5#@##
#620071 - BIRK-AHARONI SYNDROME; BKAH
Cytogenetic locations: #1q}##
#620038 - NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE; NEDMHAL
#619381 - IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82
Cytogenetic locations: 600488
#619354 - DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
Cytogenetic locations: assignment
#619339 - BARTSOCAS-PAPAS SYNDROME 2; BPS2
Cytogenetic locations: 138250
#619175 - PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
Cytogenetic locations: 0#w\##
#619143 - CARDIOACROFACIAL DYSPLASIA 2; CAFD2
Cytogenetic locations: `#####
#619142 - CARDIOACROFACIAL DYSPLASIA 1; CAFD1
Cytogenetic locations: PwU###
#618914 - NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
#618782 - LONG QT SYNDROME 16; LQT16
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC 6, INCLUDED; CPVT6, INCLUDED
Cytogenetic locations: pJVU##
#618458 - KNOBLOCH SYNDROME 2; KNO2
Cytogenetic locations: ######
#618333 - MENKE-HENNEKAM SYNDROME 2; MKHK2
Cytogenetic locations: 113508
#618332 - MENKE-HENNEKAM SYNDROME 1; MKHK1
Cytogenetic locations: 611002
#618287 - AUTOINFLAMMATORY DISEASE, FAMILIAL, BEHCET-LIKE 3; AIFBL3
#618265 - ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT; ACCIID
Cytogenetic locations: p##=##
#618204 - IMMUNODEFICIENCY 15A; IMD15A
Cytogenetic locations: 615215
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