Thanks to new testing technology, the “Standard Panel” has been updated and is now available for all new DY participants.
Walker Warburg Syndrome
Research and development on this disease was sponsored by the generosity of
לע”נ מרת גיטל ב”ר פנחס ז”ל נפטרה כ”ב אלול תשפ”ד לפ”ק
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לע”נ מרת גיטל ב”ר פנחס ז”ל נפטרה כ”ב אלול תשפ”ד לפ”ק
Prevalent by: Iranian Jews.
Prevalent by: Ashkenazi Jews.
Gene: FKTN
Mutation: c.1167insA
Carrier Frequency: 1 of 60
WWS is an autosomal recessive disorder characterized by muscular weakness present at birth, along with severe brain and eye abnormalities. The surface of the brain is abnormally smooth (lissencephaly), the cerebellum and brainstem are underdeveloped, and most infants have water on the brain (hydrocephalus). Congenital cataracts and retina malformations are usually also present. Severe developmental delay ensues, and most affected children die in early childhood. Upon encountering several incidences of this disease in Ashkenazic Jewish families, DY determined that this disease occurs in the Ashkenazi community at a higher frequency than initially believed.
Gene: FKTN
Mutation: c.1167insA
Carrier Frequency: 1 of 60
WWS is an autosomal recessive disorder characterized by muscular weakness present at birth, along with severe brain and eye abnormalities. The surface of the brain is abnormally smooth (lissencephaly), the cerebellum and brainstem are underdeveloped, and most infants have water on the brain (hydrocephalus). Congenital cataracts and retina malformations are usually also present. Severe developmental delay ensues, and most affected children die in early childhood. Upon encountering several incidences of this disease in Ashkenazic Jewish families, DY determined that this disease occurs in the Ashkenazi community at a higher frequency than initially believed.