616900.4

Country

Syria

HPO Terms

Severe global developmental delay; Absent speech; Hypoplasia of the corpus callosum; Ventriculomegaly; Periventricular leukomalacia; Severe muscular hypotonia; Areflexia; Seizure; Epicanthus; Wide nasal bridge; Deeply set eye; Autism; Bipolar affective disorder; High palate; Scoliosis

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Sex

Male

Family History

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001163435.3:c.831_832insTA	2		Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3

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References

Bhoj et al. 2016