| Demographic Data |
| Relation to Proband |
father |
| Age at Sampling |
33 YR |
| Sex |
Male |
| Hispanic or Latino/Not Hispanic or Latino |
Hispanic/Latino |
| Racial Category |
Other |
| Country |
CANADA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
TBCD,C.967C>T (P.ARG323TER), NONSENSE |
| Zygosity: |
Compound Heterozygous |
| Other variants: |
C,3137C>A (P.THR1046LYS), MISSENSE |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
NEONATAL |
| Age at Diagnosis: |
8-12 WEEKS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
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| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Hypotonia
Seizures
Structural brain anomaly
|
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Global developmental delay
|
| Gastrointestinal Symptoms |
| |
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| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
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| Cognitive and Behavioral Symptoms |
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|
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
|
| Medications |
| |
LEVETIRACETAM |
| Family History |
| |
NONE |
| Remarks |
Unaffected father of affected child (GM28478 LCL; GM28479 fibroblast). Heterozygous mutation of TBCD nonsense variant c.967C>T (p.Arg323Ter). No family history. |