617862.1.1

Lebanon

Microcephaly; Intellectual disability; Hypotonia; Lactic acidosis; Hypoplasia of the corpus callosum; Periventricular leukomalacia

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001079537.2:c.23T>A	2	NA	Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy

Proband

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617862.1.2	Lebanon		Female	No		Mother of proband