| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
9 MO |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
8 WK |
| Racial Category |
White |
| Country |
ENGLAND |
| |
| 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: |
TBCD, 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 |
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| Birth History Information |
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| Dysmorphic Features |
| |
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| Neurological Symptoms |
| |
Hypotonia
Seizures
Structural brain anomaly
|
| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
| |
Global developmental delay
|
| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| 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 |
| Remarks |
Clinically affected. No family history. Symptom onset at birth. Significant central and peripheral hypotonia; brain malformation, seizures and developmental delay. Treatment including physical therapy, occupational therapy and Levetiracetam. Compound hete |