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TTPA
- Familial Isolated Vitamin E Deficiency
BEST1
- Callosity
- Vitelliform Macular Dystrophy
TP53
- Li–fraumeni Syndrome
- Pleural Effusion
LIPA
- Lysosomal Acid Lipase Deficiency
ACADVL
- Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
PQBP1
- Renpenning's Syndrome
FAM20A
- Enamel-Renal Syndrome
SLC20A2
- Primary Familial Brain Calcification
PDGFRB
- Primary Familial Brain Calcification
GALE
- Galactose Epimerase Deficiency
TPP1
- Ceroid Lipofuscinosis, Neuronal, 10
CLN6
- Ceroid Lipofuscinosis, Neuronal, 10
CLN3
- Ceroid Lipofuscinosis, Neuronal, 10
IFIH1
- Singleton Merten Syndrome
CHEK2
- Li–fraumeni Syndrome
PDGFB
- Callosity
- Primary Familial Brain Calcification
ASS1
- Citrullinemia Type I
CTNS
- Cystinosis
PRPH2
- Vitelliform Macular Dystrophy
RB1
- Pinealoblastoma
- Trilateral Retinoblastoma
- Li–fraumeni Syndrome