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SUMF1
- Multiple Sulfatase Deficiency
MMUT
- Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
FMR1
- Primary Ovarian Insufficiency
- Cognitive Deficit
KRT17
- Pachyonychia Congenita
GYS2
- Glycogen Storage Disease 0, Liver
KRT16
- Pachyonychia Congenita
NEU1
- Glycoproteinosis
COMT
- Primary Ovarian Insufficiency
- Cognitive Deficit
- Low-Set Ears
ACE
- Severe Acute Respiratory Syndrome
- Primary Ovarian Insufficiency
MCOLN1
- Glycoproteinosis
AVP
- Polyuria
BMP15
- Primary Ovarian Insufficiency
NR5A1
- Primary Ovarian Insufficiency
POF1B
- Primary Ovarian Insufficiency
NOBOX
- Primary Ovarian Insufficiency
GDF9
- Primary Ovarian Insufficiency
APOE
- Cognitive Deficit
- Amyloid Cardiomyopathy
- Anosognosia
NFE2L2
- Primary Ovarian Insufficiency
- Pachyonychia Congenita
- Cognitive Deficit
KRT6A
- Pachyonychia Congenita
PSEN1
- Cognitive Deficit