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616801.1
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Subject Details
Country
Lebanon
HPO Terms
Intellectual disability; Hypotonia; Motor delay; Failure to thrive; Strabismus; Delayed eruption of teeth; Delayed speech and language development; Single transverse palmar crease
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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.7697A>C
2
Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2
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References
Nair et al. 2018
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