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ABHD5
- Cerebral Creatine Deficiency
MYO5B
- Microvillus Inclusion Disease
TTPA
- Familial Isolated Vitamin E Deficiency
ATRX
- Alpha-Thalassemia Mental Retardation Syndrome
GAMT
- Guanidinoacetate Methyltransferase Deficiency
ALS2
- Infantile-Onset Ascending Hereditary Spastic Paralysis
TGFBR1
- Alopecia, Androgenetic, 1
- Loeys–dietz Syndrome
TGFBR2
- Loeys–dietz Syndrome
- Dural Arteriovenous Fistula
RHBDF2
- Howel–evans Syndrome
MC2R
- Familial Glucocorticoid Deficiency
ACTG2
- Berdon Syndrome
TRNL1
- Merrf Syndrome
WDR45
- Neurodegeneration With Brain Iron Accumulation
TRNP
- Merrf Syndrome
TRNF
- Merrf Syndrome
ASS1
- Citrullinemia Type I
STX3
- Microvillus Inclusion Disease
MYH11
- Berdon Syndrome
MYLK
- Berdon Syndrome
TGFB2
- Germinoma
- Loeys–dietz Syndrome