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Rare Disease List

**COMPLETE Fabry Disease Klinefelter Syndrome Trisomy 13 (Patau Syndrome) Lynch Syndrome Neurofibromatosis (NF1, NF2)... Read More

Jessica Bucher

Genetic Counselor, MSGC

Rare Disease Guides

CHARGE Syndrome (CHD7)

Everything to know about CHD7, from the experts.

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Neurofibromatosis Type 2 (NF2)

Everything to know about NF2, from the experts.

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Prader-Willi Syndrome (PWS): Symptoms, Treatment + Podcast

Everything to know about PWS, from the experts.

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