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Combined pituitary hormone deficiency, type 3
Gene: LHX3
Cockayne syndrome, type A
Gene: ERCC8
Cockayne syndrome, type B
Gene: ERCC6
Branchio-oto-renal syndrome, type 1
Gene: EYA1_MLPA
Branchio-oto-renal syndrome, type 1
Gene: EYA1
Branchio-oto-renal syndrome, type 3
Gene: SIX1
Branchio-oculo-facial syndrome
Gene: TFAP2A
Apert syndrome
Gene: FGFR2
Alport syndrome, X-linked form
Gene: COL4A5_MLPA
Alport syndrome, AR form
Gene: COL4A4
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