614673.1

Country

Saudi Arabia

HPO Terms

Agenesis of corpus callosum; Severe short stature; Spasticity; Global developmental delay; Failure to thrive; Intrauterine growth retardation; Conductive hearing impairment; Scoliosis; Hypotelorism; Sloping forehead; Small face; Wide nose

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Sex

Male

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_025009.5:c.2722C>T	2		Microcephaly 8, Primary, Autosomal Recessive

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References

Shaheen et al. 2019