RareDisease | Patient Referal Portal

1. Age at first symptom

2. Current status

3. Physical Measures

4. Clinical manifestations (HPO terms)

Features of Dysmorphism Present Absent

5. Family History

Consanguinity

Affected family members with similar illness

History of pregnancy loss:

6. Birth History

Full term birth:

Term at delivery (Weeks of POA):

Presence of antenatal malformations:

Growth parameters at birth:

7. 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?

8. Gene(s) involved (if applicable)

Gene(s) involved (if applicable):

Gene(s) :

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

Specific treatment(s) given

Specific treatment(s)