| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
5 MO |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
5 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
More than one race |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
MISSENSE VARIANT IN TNPO2 GENE, C.466G>A (P.ASP156ASN) |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
33 WKS GESTATION |
| Age at Diagnosis: |
4.5 MONTHS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
|
| Additional Information: |
EPILEPSY |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Global developmental delay
|
| Additional Information: |
DEVELOPMENTAL REGRESSIONS |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Uncategorized Symptoms: |
FAILURE TO THRIVE |
| Testing Performed |
| Neurological Testing: |
EEG, MRI |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
|
| Medications |
| Family History |
| Remarks |
Clinically affected. See "Phenotypic Data" Tab. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. |