SSADH Association

SSADH Patient Registration

Contact Information

State / Province*
Confirm Email*
Date of Birth
Primary Contact for Patient (First and Last Name)
Primary Contact Email Address
Secondary Contact for Patient (First and Last Name)
Secondary Email Address
What tests have you undergone?
  • None
  • Urine Organic Acid
  • Blood
  • Genetic
  • Other
Diagnosing Physician Type
  • Primary Care Physician
  • Pediatrician
  • Geneticist
  • Neurologist
  • Other
Diagnosing Physician Name
Diagnosing Practice Specialty
  • Education
  • Family Practice
  • Genetics
  • Neurology
  • Occupational Therapy
  • Other
  • Pediatrics
  • Physical Therapy
  • Research
  • Speech Therapy
Clinic Name where diagnosed
Clinic City where diagnosed
Clinic State/Province where diagnosed
Clinic Zip/Postal Code where diagnosed
Clinic Country where diagnosed
Genetic Trait
  • Homozygote
  • Heterozygote
Mutation Type
  • Deletion
  • Frameshift
  • Insertion
  • Missense
  • Nonsense
  • Splice Site
  • Unknown
Exon (Example: 1-9)
Nucleotide Change (Example: c.612G>A or c.34dupG)
Protein Change (Example: p.W204 or p.A12fsX123)
Exon #2
Nucleotide #2
Protein #2
Additional Comments

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