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616801.6
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Subject Details
Country
Egypt
HPO Terms
Psychomotor retardation; Failure to thrive; Choreoathetosis; Axial hypotonia; Parietal cortical atrophy; Frontal cortical atrophy
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Sex
Male
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_032504.1:c.8058+2T>G
2
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2
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References
Bramswig et al. 2018
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