236670.2

Saudi Arabia

Hydrocephalus; Seizure; Global developmental delay; Microphthalmia; Retinal detachment; Type II lissencephaly; Highly elevated creatine kinase

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001077365.2:c.280+1G>T	2		Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 1

Patient had a similarly affected deceased younger sister. Patient is identified as 08DG00271 in the publication.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
236670.3	Saudi Arabia	Hydrocephalus; Stillbirth	Unknown	Yes	Yes	Subject had 4 older siblings that also suffered intra-uterine fetal demise. Identified as 11DG0673 in the publication.
236670.4	Saudi Arabia	Ventriculomegaly; Agenesis of cerebellar vermis; Abnormal brainstem morphology; Dysplastic corpus callosum; Lissencephaly; Developmental cataract	Unknown	Yes	Yes	Patient had a deceased older brother with anencephaly and a deceased cousin with Potter syndrome