| Demographic Data |
| Relation to Proband |
mother |
| Age at Sampling |
38 YR |
| Sex |
Female |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
Asian |
| Country |
USA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
GENETIC TESTING REVEALED A VARIANT OF UNCERTAIN SIGNIFICANCE: SGCE, C.757G>A (P.GLU253LYS). |
| 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 |
Unaffected mother. LCL is GM30220. Unaffected daughter is GM30217 (LCL) and GM30219 (Fibro).Mother's genetic test results found that she also carries the variant of uncertain significance in SGCE, C.757G>A (P.GLU253LYS) The other proband variants: KCNH5, C.479 G>A (P.ARG160GLN) and PACS1 c.607C>T (p.Arg203Trp) were NOT DETECTED in the mother. |