| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
40 YR |
| Sex |
Male |
| 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.14126C>T (P.THR4709MET), MISSENSE, EXON 96 |
| Other variants: |
RYR1, C.5140_5142DELCTC (P.LEU1714DEL), DELETION, EXON 34 |
| 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 |
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RYR1 C.14126C>T MUTATION INHERITED FROM FATHER |
| Remarks |
Clinically affected; donor is heterozygous in exon 96 of the RYR1 gene for variant c.14126C>T, which is predicted to result in the amino acid substitution p.Thr4709Met; donor is also heterozygous in exon 34 of the RYR1 gene for c.5140_5142delCTC (p.Leu1714del) |