RS28934907 MECP2
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What This Variant Does
"MECP2 Rett syndrome mutation, c.316C>
Associated Conditions
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Autism
susceptibility to
X-linked 3
X-linked intellectual disability-psychosis-macroorchidism syndrome
Inborn genetic diseases
Syndromic X-linked intellectual disability Lubs type
MECP2-related disorder
See cases
Rett syndrome
MECP2-related disorder
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Autism
Other Variants in MECP2