610181.2.1

Arab

Microcephaly; Global developmental delay; Intellectual disability; Spasticity; Brain atrophy; Abnormal cerebral white matter morphology; Seizure

Female

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001142279.2:c.554T>G	2		AicardiI-Goutieres Syndrome 2

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
610181.2	Arab	Leukoencephalopathy; Microcephaly; Leukodystrophy; Hepatosplenomegaly; Thrombocytopenia; Plagiocephaly			Yes