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#620675 - LEUKODYSTROPHY, HYPOMYELINATING, 27; HLD27
Gene summaries Genetic tests Medical literature
#620647 - PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6; PEOB6
#620610 - OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 21; OZEMA21
#620519 - ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES; ARCME
Cytogenetic locations: ##/J##
#620040 - DYSKERATOSIS CONGENITA, DIGENIC; DKCD
#619774 - IMMUNODEFICIENCY 96; IMD96
#619687 - DYSTONIA 33; DYT33
Cytogenetic locations: mutation
#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##
#619538 - CEREBRAL CAVERNOUS MALFORMATIONS 4; CCM4
#619465 - VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE; VSCN2
Cytogenetic locations: ######
#619451 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E
Cytogenetic locations: ###Q##
#619339 - BARTSOCAS-PAPAS SYNDROME 2; BPS2
Cytogenetic locations: 138250
#619182 - GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS
#619087 - NOONAN SYNDROME 13; NS13
Cytogenetic locations: 0#{}##
#618877 - LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
#618681 - LESSEL-KUBISCH SYNDROME; LSKB
Cytogenetic locations: #d####
#618372 - GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP
Cytogenetic locations: P#_###
#618333 - MENKE-HENNEKAM SYNDROME 2; MKHK2
Cytogenetic locations: 113508
#618332 - MENKE-HENNEKAM SYNDROME 1; MKHK1
Cytogenetic locations: 611002
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