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Primary microcephaly, autosomal recessive type 2 (MCPH2) – sequencing analysis of the WDR62 gene

Renal tubular acidosis, distal, autosomal recessive (RdRTA) – sequencing analysis of the ATP6V0A4 gene

Renal tubular acidosis, distal with progressive sensorineural deafness – sequencing analysis of the ATP6V1B1 gene

Incontinentia pigmenti type 2 (IP) – sequencing analysis of the NEMO (IKBKG) gene (including RNA studies)

 

Lipodystrophy, congenital generalised type 1 (CGL1), Lipodystrophy, congenital generalised type 2 (CGL2), Lipodystrophy, familial partial type 2 (FPLD2), Lipodystrophy, familial partial type 3 (FPLD3)