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NEDAMSS · ILIsraeli family registry for NEDAMSS / IRF2BPL syndrome

Families ContactRegister

Join the registry

Required fields are marked with an asterisk (*). Your details go to the registry team only.

About you

I am completing this as a *

Full name *

Email *

Phone

Recommended — we sometimes follow up via WhatsApp

Country *

City / Region *

Preferred language for follow-up

HebrewEnglishOther

About the diagnosed individual

Patient name (or initials)

If more than one child is affected, please fill in this form again for each.

Date of birth *

Sex *

Year of genetic diagnosis *

Age of symptom onset

Age in years when the first signs appeared. May differ from the age at diagnosis.

Has the patient experienced regression (loss of acquired skills)? *

YesNoUnknown

Variant / mutation *

Copy from your genetic testing report. If you don't have it handy, write "unknown".

To the best of your knowledge, this variant is *

De novo (new — not inherited from either parent)Inherited (passed down from a parent)Unknown

Description of symptoms

What you've observed clinically. Free text.

Hospital / treating physician

Anything else?

ConsentI consent to being contacted by the registry team *I consent to a pin appearing on the registry map (city only — no personal information)I consent to being connected with other Israeli families nearbyPlease contact me if a study or clinical trial opens that we may qualify for

NEDAMSS Israel

Questions, or want to be in touch? Contact

contact@nedamss.com

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