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ATP13A2
- Dementia
- Kufor–rakeb Syndrome
ABHD5
- Cerebral Creatine Deficiency
FLNB
- Pectus Excavatum
- Dementia
- Tarsal Coalition
- Spondylocarpotarsal Synostosis Syndrome
GAMT
- Guanidinoacetate Methyltransferase Deficiency
PAH
- Phenylketonuria (Pku)
ADA2
- Dementia
- Sneddon Syndrome
PRKCG
- Spinocerebellar Ataxia Type 14
APP
- Dementia
- Phenylketonuria (Pku)
- Spondylocarpotarsal Synostosis Syndrome
TREM2
- Dementia
POU3F4
- Deafness, Progressive, With Stapes Fixation
MYH3
- Pectus Excavatum
- Tarsal Coalition
- Spondylocarpotarsal Synostosis Syndrome
NOTCH3
- Pectus Excavatum
- Dementia
MAPT
- Dementia
- Alopecia, Androgenetic, 1
PRNP
- Dementia
- Alopecia, Androgenetic, 1
GRN
- Dementia
PSEN2
- Dementia
CST3
- Dementia
DNMT1
- Dementia
SRD5A2
- Alopecia, Androgenetic, 1
CP
- Dementia