There are 39 people in the Pontocerebellar Hypoplasia map

Pontocerebellar Hypoplasia life expectancy

What is the life expectancy of someone with Pontocerebellar Hypoplasia...

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ICD9 and ICD10 codes of Pontocerebellar Hypoplasia

ICD10 code of Pontocerebellar Hypoplasia and ICD9 code

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Is Pontocerebellar Hypoplasia contagious?

Is Pontocerebellar Hypoplasia contagious?

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Is Pontocerebellar Hypoplasia hereditary?

Is Pontocerebellar Hypoplasia hereditary?

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Stories of Pontocerebellar Hypoplasia

STORY
Pontocerebellar Hypoplasia stories
Our beautiful little girl was diagnosed when she was 4 months old when she became very sick and ended up in the hospital for a 2 week stay. She was diagnosed by MRI. We have yet to receive a genetic diagnosis. She is now almost a year old and she has...
Pontocerebellar Hypoplasia stories
Ben was diagnosed at the age of one and a half with PCH3 through MRI.   Ben's condition includes Optic Nerve Atrophy, Cortical Visual Impairment, Epilepsy, Microcephaly, Club Foot, etc.  He was born in 2008 and is maintains a small stature (ap...
Pontocerebellar Hypoplasia stories
My son had PCH1A, a mutation of the VRK1 gene.
Pontocerebellar Hypoplasia stories
It didn't take long after the wedding to find out we were pregnant 🤰🏼And expecting a little boy 👶🏼We couldn't be any more excited! The day finally arrived and labor and delivery was a breeze Luke came into this world on 7-...
Pontocerebellar Hypoplasia stories
We received Colton's genetic diagnosis via whole exome sequencing in September of 2015. He has PCH2 due to the TSEN54 mutation.  

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Pontocerebellar Hypoplasia forum

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Statistics of Pontocerebellar Hypoplasia

1 people with Pontocerebellar Hypoplasia have taken the SF36 survey. Mean of Pontocerebellar Hypoplasia is 1035 points (29 %). Total score ranges from 0 to 3,600 being 0 the worst and 3,600 the best. Take the SF36 Survey

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Pontocerebellar Hypoplasia