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ABHD5
- Cerebral Creatine Deficiency
GAMT
- Guanidinoacetate Methyltransferase Deficiency
TRPV4
- Metatropic Dysplasia
DYNC2H1
- Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
TMEM240
- Spinocerebellar Ataxia 21
IQSEC2
- Mental Retardation, X-Linked 2
PAM16
- Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
DLG3
- Mental Retardation, X-Linked 2
IFT80
- Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
GDI1
- Mental Retardation, X-Linked 2
TSPEAR
- Ectodermal Dysplasia 14, Hair/tooth Type With Or Without Hypohidrosis
SRD5A2
- Alopecia, Androgenetic, 1
AR
- Alopecia, Androgenetic, 1
IFT57
- Oral-Facial-Digital Syndrome With Short Stature And Brachymesophalangy
PAK3
- Mental Retardation, X-Linked 2
ACSL4
- Mental Retardation, X-Linked 2
RNU4ATAC
- Epiphyseal Dysplasia, Microcephaly, And Nystagmus
ARX
- Mental Retardation, X-Linked 2
MECP2
- Mental Retardation, X-Linked 2
WDR34
- Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly