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Case ID
Gender:
Age:
ISCN Nomenclature:
Deletion:
Duplication:
Recipient:
Inheritance:
Person submitting case:
Institute:
Address:
City:
State/Province:
Country:
Phone:
FAX:
email:
Notes:
Metabolic Screening
Urine Organic Acids:
Urine Amino Acids:
Serum Amino Acids:
Very Long Chain Fatty Acids:
Fatty Acid Oxidation:
Mitochondrial testing:
Muscle Biopsy:
Other:
Radiology Studies
Brain MRI:
Brain CT:
Skeletal Survey:
X-rays:
Other:
Other Labs
Endocrine:
Hematology:
CBC:
Thyroid:
Other:
MR/DD:
Degree:
Speech:
Gait:
Dysmorphic Features
Eye position:
Eye anomalies:
Ear position:
Ear anomalies:
Nose:
Hair:
Head Shape:
Mouth or Chin:
Cleft Lip:
Cleft Palate:
Other:
Behavior Problems
Aggressive:
Hyperactivity:
ADHD:
ADD:
Autism:
Self Abuse:
Other:
Growth
IUGR:
Failure to thrive symmetric growth:
Failure to thrive asymmetric growth:
Short stature:
Tall stature:
Obesity:
Hemihypertrophy:
Other:
Other Anomalies
Microcephaly:
Macrocephaly:
Brain anomalies:
Congenital Heart Defect:
Respiratory anomalies:
Abdominal Wall Defect:
GI Anomalies:
Renal anomalies:
Genital or urinary anomalies:
Limb anomalies:
Skeletal anomalies:
Skin anomalies:
Neural Tube Defects:
Seizures:
Hypertonia:
Hypotonia:
Other:
PREGNANCY HISTORY
Gestational Age at delivery in weeks:
Oligohydramnios:
Polyhydramnios:
Abnormal Ultrasound Findings:
Abnormal Triple Screen:
Other:
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