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#180500 - AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1
Cytogenetic locations: 18942889
Gene summaries Genetic tests Medical literature
#119600 - CLEIDOCRANIAL DYSPLASIA 1; CLCD1
CLEIDOCRANIAL DYSPLASIA 1, FORME FRUSTE, WITH BRACHYDACTYLY, INCLUDED
Cytogenetic locations: 10545612
#241500 - HYPOPHOSPHATASIA, INFANTILE; HPPI
HYPOPHOSPHATASIA, PERINATAL LETHAL, INCLUDED; HPPN, INCLUDED
Cytogenetic locations: 18386808
#226700 - EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE; JEB1B
Cytogenetic locations: IL24
#116920 - LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD1
Cytogenetic locations: 17902162
#194190 - WOLF-HIRSCHHORN SYNDROME; WHS
Cytogenetic locations: 12563561
#617468 - ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT; AMC1
Cytogenetic locations: 28318499
#101600 - PFEIFFER SYNDROME
CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, INCLUDED
Cytogenetic locations: 17120318
#607014 - HURLER SYNDROME
Cytogenetic locations: 614552
#236200 - HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, INCLUDED
Cytogenetic locations: 11596648
#210900 - BLOOM SYNDROME; BLM
Cytogenetic locations: 612820
#309000 - LOWE OCULOCEREBRORENAL SYNDROME; OCRL
Cytogenetic locations: 19430698
#270400 - SMITH-LEMLI-OPITZ SYNDROME; SLOS
Cytogenetic locations: 10710236
*600211 - RUNT-RELATED TRANSCRIPTION FACTOR 2; RUNX2
Cytogenetic locations: 11960980
*608215 - LIM HOMEOBOX GENE 6; LHX6
Cytogenetic locations: 9q31.1
*176975 - PROTEIN KINASE C, EPSILON; PRKCE
Cytogenetic locations: Map4k3
*604875 - MYOSIN IXA; MYO9A
Cytogenetic locations: 27259756
*608769 - PYRUVATE DEHYDROGENASE COMPLEX, COMPONENT X; PDHX
Cytogenetic locations: 16566017
*605145 - ANKH INORGANIC PYROPHOSPHATE TRANSPORT REGULATOR; ANKH
Cytogenetic locations: 12297989
*102576 - ACTIVIN A RECEPTOR, TYPE I; ACVR1
Cytogenetic locations: 19029982
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