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%314300 - TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA; TKCR
Cytogenetic locations: -
Gene summaries Genetic tests Medical literature
*308840 - L1 CELL ADHESION MOLECULE; L1CAM
Cytogenetic locations: 11438988
#306700 - HEMOPHILIA A; HEMA
Cytogenetic locations: 15543879
#300260 - INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE; MRXSL
Cytogenetic locations: 16080119
#300100 - ADRENOLEUKODYSTROPHY; ALD
ADRENOMYELONEUROPATHY, INCLUDED; AMN, INCLUDED
Cytogenetic locations: Keipert
#194050 - WILLIAMS-BEUREN SYNDROME; WBS
Cytogenetic locations: 19637430
#188400 - DIGEORGE SYNDROME; DGS
DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED
Cytogenetic locations: 14585638
%155145 - CLEFT, MEDIAN, OF UPPER LIP WITH POLYPS OF FACIAL SKIN AND NASAL MUCOSA
#102700 - SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
SCID DUE TO ADA DEFICIENCY, DELAYED ONSET, INCLUDED
Cytogenetic locations: 17241535
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