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ABHD5
- Cerebral Creatine Deficiency
BRAF
- Langerhans Cell Histiocytosis
- Vascular Malformation
- Macrotia
- Webbed Neck
GAMT
- Guanidinoacetate Methyltransferase Deficiency
EFNB1
- Craniofrontonasal Dysplasia
IRF6
- Hypodontia
- Van Der Woude Syndrome
FGFR2
- Macrotia
- Apert Syndrome
GRHL3
- Van Der Woude Syndrome
BCHE
- Butyrylcholinesterase Deficiency
ALPL
- Odontohypophosphatasia
LMNB2
- Acquired Partial Lipodystrophy
FREM1
- Trigonocephaly
MSX1
- Hypodontia
RB1
- Pinealoblastoma
- Webbed Neck
- Trilateral Retinoblastoma
SRD5A2
- Alopecia, Androgenetic, 1
AR
- Alopecia, Androgenetic, 1
- Langerhans Cell Histiocytosis
MFN2
- Anosmia
- Benign Symmetric Lipomatosis
IRX5
- Hypodontia
- Webbed Neck
ABCC2
- Alopecia, Androgenetic, 1
SUPV3L1
- Alopecia, Androgenetic, 1
VDR
- Alopecia, Androgenetic, 1