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TFAP2B
- Char Syndrome
SCN4A
- Paramyotonia Congenita
FH
- Hereditary Leiomyomatosis And Renal Cell Cancer Syndrome
SLC46A1
- Hereditary Folate Malabsorption
GRHPR
- D-Glycerate Dehydrogenase Deficiency
TBCE
- Sanjad-Sakati Syndrome
KANSL1
- 17q21.31 Microdeletion Syndrome
CTC1
- Cerebroretinal Microangiopathy With Calcifications And Cysts
MED12
- Hereditary Leiomyomatosis And Renal Cell Cancer Syndrome
- Lujan–fryns Syndrome
GLE1
- Lethal Congenital Contracture Syndrome
RSPO4
- Anonychia Congenita
FLNA
- Melnick–needles Syndrome
ACVR2B
- Laterality Defects, Autosomal Dominant
FANCC
- Fanconi Anemia, Complementation Group R
FANCG
- Fanconi Anemia, Complementation Group R
BRIP1
- Fanconi Anemia, Complementation Group R
FANCM
- Fanconi Anemia, Complementation Group R
FANCA
- Fanconi Anemia, Complementation Group R
FANCD2
- Fanconi Anemia, Complementation Group R
SLX4
- Fanconi Anemia, Complementation Group R