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%613678 - BRACHYOLMIA TYPE 2; BCYM2
Gene summaries Genetic tests Medical literature
#616126 - IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION; IMD38
Cytogenetic locations: 1p36.33
306990 - MICROHYDRANENCEPHALY, X-LINKED; MHACX
#618494 - CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES; CHEDDA
Cytogenetic locations: 30827498
#271665 - SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
Cytogenetic locations: Fc
#109400 - BASAL CELL NEVUS SYNDROME 1; BCNS1
Cytogenetic locations: 16906569
#154780 - MARSHALL SYNDROME; MRSHS
Cytogenetic locations: Gpr88
%112350 - WEISMANN-NETTER SYNDROME; WNS
#177850 - PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE
PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED
Cytogenetic locations: 613577
#617053 - MIRAGE SYNDROME; MIRAGE
Cytogenetic locations: 600079
#603671 - ACROMELIC FRONTONASAL DYSOSTOSIS; AFND
Cytogenetic locations: -
*601309 - PATCHED 1; PTCH1
Cytogenetic locations: 18981943
#162091 - SCHWANNOMATOSIS 1; SWN1
Cytogenetic locations: 22038540
#607174 - MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
Cytogenetic locations: 1p36, 1p36, 1p36, 1p36, 610249, 1p36
*601607 - SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY B, MEMBER 1; SMARCB1
Cytogenetic locations: 12016208
122900 - CRANIOFACIAL DYSOSTOSIS WITH DIAPHYSEAL HYPERPLASIA
%271530 - BRACHYOLMIA TYPE 1, HOBAEK TYPE; BCYM1A
#620343 - BASAL CELL NEVUS SYNDROME 2; BCNS2
Cytogenetic locations: Hyperoxaluria
%601452 - OCULOAURICULOFRONTONASAL SYNDROME; OAFNS
#613735 - BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS; BRMUTD
CHROMOSOME 1p32-p31 DELETION SYNDROME, INCLUDED
Cytogenetic locations: 601676
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