| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
30 YR |
| Sex |
Female |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
RYR1, C.631+1G>T, SPLICING, EXON 7 |
| Zygosity: |
Compound Heterozygous |
| Other variants: |
RYR1, C.14126C>T (P.T4709M), MISSENSE, EXON 96 |
| Age of Symptom Onset and Age at Diagnosis |
| 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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| Medications |
| Family History |
| Remarks |
Clinically affected; Sanger sequencing of the RYR1 gene showed a heterozygous mutation in exon 7 expected to disrupt the intron 7 splice donor site, c.631+1 G>T, and a heterozygous mutation in exon 96, c.14126 C>T (p.Thr4709Met); other variants of uncertain significance found in exon 7 include: a homozygous c.594 A>G (p.Leu198Leu) mutation and a homozygous c.631+39dupC mutation; mother(GM26161) and father(not in repository) are unaffected carriers. |