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ABHD5
- Cerebral Creatine Deficiency
MYO5B
- Microvillus Inclusion Disease
GAMT
- Guanidinoacetate Methyltransferase Deficiency
- Speech Delay
TTPA
- Familial Isolated Vitamin E Deficiency
ALS2
- Infantile-Onset Ascending Hereditary Spastic Paralysis
PQBP1
- Renpenning's Syndrome
MC2R
- Familial Glucocorticoid Deficiency
IFIH1
- Hepatitis E
- Singleton Merten Syndrome
STX3
- Microvillus Inclusion Disease
SRD5A2
- Alopecia, Androgenetic, 1
AR
- Alopecia, Androgenetic, 1
PTEN
- Lumbar Disc Disease
- Speech Delay
RB1
- Pinealoblastoma
- Trilateral Retinoblastoma
MRAP
- Familial Glucocorticoid Deficiency
VDR
- Alopecia, Androgenetic, 1
- Lumbar Disc Disease
ZFP36
- Alopecia, Androgenetic, 1
- Familial Isolated Vitamin E Deficiency
- Vascular Tumor
CILP
- Lumbar Disc Disease
DDX58
- Hepatitis E
- Singleton Merten Syndrome
TNFRSF10A
- Alopecia, Androgenetic, 1
- Lumbar Disc Disease
MTHFR
- Alopecia, Androgenetic, 1
- Familial Isolated Vitamin E Deficiency