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ABHD5
- Cerebral Creatine Deficiency
ATP13A2
- Kufor–rakeb Syndrome
MYO5B
- Microvillus Inclusion Disease
GAMT
- Guanidinoacetate Methyltransferase Deficiency
DMD
- Muscular Dystrophy, Becker Type
- Pectus Excavatum
ADA2
- Thrombocytosis
- Sneddon Syndrome
ALS2
- Infantile-Onset Ascending Hereditary Spastic Paralysis
MC2R
- Familial Glucocorticoid Deficiency
ITM2B
- Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
STX3
- Microvillus Inclusion Disease
THPO
- Thrombocytosis
MPL
- Thrombocytosis
JAK2
- Thrombocytosis
TP53
- Alopecia, Androgenetic, 1
- Disseminated Superficial Actinic Porokeratosis
- Pectus Excavatum
- Carcinoid Syndrome
- Epidermoid Cysts
AR
- Thrombocytosis
- Alopecia, Androgenetic, 1
- Pectus Excavatum
SRD5A2
- Alopecia, Androgenetic, 1
RB1
- Pinealoblastoma
- Trilateral Retinoblastoma
SDHD
- Pectus Excavatum
- Carcinoid Syndrome
MRAP
- Familial Glucocorticoid Deficiency
VDR
- Alopecia, Androgenetic, 1
- Lumbar Disc Disease
- Epidermoid Cysts