618065.3.1

Saudi Arabia

Neonatal hypotonia; Microcephaly; Severe global developmental delay; Seizure; Abnormal facial shape; Axial hypotonia; Brain atrophy

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_005033.3:c.41T>C	2	NA	Pontocerebellar Hypoplasia, Type 1D

'Individual 3:II-1' in the publication. This patient had an older sister with severe spasticity, epilepsy, and brain atropy.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
618065.3.2	Saudi Arabia		Male			Father of 618065.3.1
618065.3.3	Saudi Arabia		Female			Mother of 618065.3.1