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PNP
- Purine Nucleoside Phosphorylase Deficiency
SRY
- Xy Gonadal Dysgenesis
KRT17
- Pachyonychia Congenita
NR5A1
- Xy Gonadal Dysgenesis
KRT16
- Pachyonychia Congenita
SOX9
- Xy Gonadal Dysgenesis
CASR
- Polyuria
- Hypercalcaemia
DMRT1
- Xy Gonadal Dysgenesis
ZFPM2
- Xy Gonadal Dysgenesis
MAP3K1
- Xy Gonadal Dysgenesis
PTH
- Hypercalcaemia
DHH
- Xy Gonadal Dysgenesis
WT1
- Xy Gonadal Dysgenesis
CBX2
- Xy Gonadal Dysgenesis
SLC34A1
- Polyuria
- Hypercalcaemia
IL6
- Severe Acute Respiratory Syndrome
- African Trypanosomiasis
- Polyuria
- Cognitive Deficit
- Hypercalcaemia
CYP24A1
- Polyuria
- Hypercalcaemia
KRT6A
- Pachyonychia Congenita
TNF
- Severe Acute Respiratory Syndrome
- African Trypanosomiasis
- Cognitive Deficit
- Hypercalcaemia
APOE
- Anosognosia
- Cognitive Deficit