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ABHD5
- Cerebral Creatine Deficiency
GAMT
- Guanidinoacetate Methyltransferase Deficiency
MAST1
- Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
RAC1
- Mental Retardation, Autosomal Dominant 48
PACS2
- Epileptic Encephalopathy, Early Infantile, 66
RAD21
- Mungan Syndrome
FOXC1
- Dandy–walker Malformation
CCND2
- Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
PIK3R2
- Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
AKT3
- Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
NID1
- Dandy–walker Malformation
SRD5A2
- Alopecia, Androgenetic, 1
EXOC3L2
- Dandy–walker Malformation
AR
- Alopecia, Androgenetic, 1
FH
- Fumarase Deficiency
DWS
- Dandy–walker Malformation
TXNDC15
- Mungan Syndrome
ABCC2
- Alopecia, Androgenetic, 1
SUPV3L1
- Alopecia, Androgenetic, 1
VDR
- Alopecia, Androgenetic, 1