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FGFR1
- Oxycephaly
- Isolated Cloverleaf Skull Syndrome
- Osteoglophonic Dysplasia
- Lumbar Disc Disease
- Anaplastic Thyroid Cancer
ABHD5
- Cerebral Creatine Deficiency
MYO5B
- Microvillus Inclusion Disease
GAMT
- Guanidinoacetate Methyltransferase Deficiency
ALS2
- Infantile-Onset Ascending Hereditary Spastic Paralysis
ERF
- Oxycephaly
- Isolated Cloverleaf Skull Syndrome
MC2R
- Familial Glucocorticoid Deficiency
IFIH1
- Singleton Merten Syndrome
ZIC1
- Oxycephaly
FGFR2
- Oxycephaly
- Isolated Cloverleaf Skull Syndrome
- Osteoglophonic Dysplasia
STX3
- Microvillus Inclusion Disease
TWIST1
- Oxycephaly
- Anaplastic Thyroid Cancer
SRD5A2
- Alopecia, Androgenetic, 1
WDR35
- Oxycephaly
- Isolated Cloverleaf Skull Syndrome
AR
- Alopecia, Androgenetic, 1
RB1
- Pinealoblastoma
- Trilateral Retinoblastoma
MRAP
- Familial Glucocorticoid Deficiency
VDR
- Alopecia, Androgenetic, 1
- Lumbar Disc Disease
- Anaplastic Thyroid Cancer
EZH2
- Oxycephaly
- Osteoglophonic Dysplasia
- Anaplastic Thyroid Cancer
IFNG
- Cerebral Creatine Deficiency
- Legionnaires' Disease
- Anaplastic Thyroid Cancer