616801.8.1

Palestine; United Arab Emirates

Hypotonia; Microcephaly; Abnormal facial shape; Global developmental delay; Absent speech; Intellectual disability; Seizure; Scoliosis

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_032504.1:c.8525G>A	2		Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2

Proband (Emirati of Palestinian origin)

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616801.8.2	Palestine; United Arab Emirates		Male			Father of 616801.8.1 (Emirati of Palestinian origin)
616801.8.3	Palestine; United Arab Emirates		Female			Mother of 616801.8.1 (Emirati of Palestinian origin)