268050.1.3

Lebanon

Microcephaly; Postnatal growth retardation; Intellectual disability; Hypotonia; Chorioretinal dystrophy; Myopia

Male

Yes

Yes

Variant Name	Allele Count	Associated Disease
NM_017890.4:c.9406-1G>T	2	Retinopathy, Pigmentary, and Mental Retardation

Cousin of 268050.1.1 and 268050.1.2

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
268050.1.1	Lebanon	Microcephaly; Postnatal growth retardation; Intellectual disability; Hypotonia; Chorioretinal dystrophy; Myopia	Male	Yes	Yes	Brother of 268050.1.2, Cousin of 268050.1.3
268050.1.2	Lebanon	Microcephaly; Postnatal growth retardation; Intellectual disability; Hypotonia; Chorioretinal dystrophy; Myopia	Male	Yes	Yes	Brother of 268050.1.1, Cousin of 268050.1.3