RS138632121 HCFC1R1
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Associated Conditions
Inborn genetic diseases
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Intellectual disability
Dystonia
early-onset
and/or spastic paraplegia
Inborn genetic diseases
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Intellectual disability
Dystonia
early-onset
and/or spastic paraplegia
Population Frequencies
gnomAD ALL
0%
1kG AFR
100%
1kG ALL
0%
1kG AMR
100%
1kG EAS
100%
1kG EUR
99.9%
1kG SAS
100%