Genetic Predispositions

7199up to 25 w.d.

Costello Syndrome, Gene HRAS, Mut.

58,800 AMD

7738FGFRup to 25 w.d.

Jackson-Weiss Syndrome, JWS, Exon 9 Gene FGFR2, Exon 7A Gene FGFR1, Mut.

Genetic Predispositions

76,300 AMD

77703up to 18 w.d.

Laboratory Test 77703

Genetic Predispositions

30,100 AMD

7194up to 25 w.d.

Joubert Syndrome, Cerebelloparenchymal Disorder IV, CPD IV, Classic Joubert Syndrome, Joubert Syndrome type A, Joubert-Boltshauser Syndrome, Pure Joubert Syndrome, Gene NPHP1, Mut.

Genetic Predispositions

123,500 AMD

7195up to 25 w.d.

Carpenter Syndrome, Gene RAB23, Mut.

Genetic Predispositions

218,000 AMD

7768GJB2up to 25 w.d.

Keratitis-Ichthyosis-Deafness Syndrome, KID Syndrome, Gene GJB2, Mut.

Genetic Predispositions

76,300 AMD

7198up to 25 w.d.

Klippel-Feil Syndrome, Gene GDF6, Mut.

Genetic Predispositions

113,900 AMD

7739ERCC6up to 34 w.d.

Cockayne Syndrome, Gene ERCC6, Mut.

Genetic Predispositions

616,600 AMD

7010UGIup to 18 w.d.

Crigler-Najjer Syndrome, Gene UGT1, Mut.

Genetic Predispositions

150,400 AMD

7794CIAS1up to 34 w.d.

Muckle-Wells Syndrome, MWS, Gene NLRP3, Mut.

Genetic Predispositions

351,900 AMD

7964FGFR2up to 25 w.d.

Crouzon Syndrome, Exons 7, 9 Gene FGFR2, Mut.

Genetic Predispositions

76,300 AMD

7760FGFR3up to 25 w.d.

Crouzon Syndrome with Acanthosis Nigrican, CAN, Exon 10 Gene FGFR3, Mut.

Genetic Predispositions

58,800 AMD

7737RAB27up to 25 w.d.

Griscelli Syndrome, Gene RAB27A, Mut.

Genetic Predispositions

157,900 AMD

7740PAX3up to 25 w.d.

Craniofacial-Deafness-Hand Syndrome, CDHS, Gene PAX3, Mut.

Genetic Predispositions

261,600 AMD

7202up to 32 w.d.

Coffin-Lowry Syndrome, Gene RPS6KA3, Mut.

Genetic Predispositions

587,200 AMD