| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
60 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
44 YR |
| Age at Diagnosis(If not a control) |
46 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
More than one race |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
VCP, C.464G>A (P.ARG155HIS), MISSENSE |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
44 YEARS |
| Age at Diagnosis: |
46 YEARS |
| 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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| Additional Information: |
MUSCLE WEAKING |
| 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 |
| |
Speech therapy
Wheelchair or ambulation devices
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| Medications |
| Family History |
| |
FATHER, TWO PATERNAL UNCLES, ONE BROTHER: ALL WITH VCP MUTATION CONFIRMED |
| Remarks |
Clinically affected. See Phenotypic Data tab. Fibro is GM28273. |