| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
2 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
15 MO |
| Racial Category |
Other |
| Country |
USA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
EXOME ANALYSIS REVEALED A HOMOZYGOUS MUTATION IN THE COL6A2 GENE: C.1402C>T (P.ARG468*), EXON 17 |
| Zygosity: |
Homozygous |
| Other variants: |
EXOME ANALYSIS ALSO REVEALED A HETEROZYGOUS MUTATION OF UNCERTAIN SIGNIFICANCE IN THE COL6A3 GENE: C.1874G>C (P.ARG625THR), EXON 5 |
| Age of Symptom Onset and Age at Diagnosis |
| Age at Diagnosis: |
15 MONTHS |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
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| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
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| 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 |
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Occupational therapy
Physical therapy
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| Medications |
| Family History |