Rare Disease Referral System

1. Age at first symptom

2. Current status

3. Physical Measures

4. Empty

4. Clinical manifestations (HPO terms)

Features of Dysmorphism Present Absent

6. Family History

Consanguinity

Affected family members with similar illness

History of pregnancy loss:

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8. Diagnosis

Current status of the diagnosis:

Definitive / Probable Diagnosis * ICD code:

Age at diagnosis (If confirmed):

Method(s) used for diagnosis:

Method(s) of genetic testing (if applicable):

Are there asymptomatic carriers in the family?

9. Gene(s) involved (if applicable)

10. Treatment

Is a treatment specific to the rare disease is in progress? *

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