| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
5 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
6 MO |
| Age at Diagnosis(If not a control) |
3 YR |
| Hispanic or Latino/Not Hispanic or Latino |
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: |
C.2059C>T ON EXON 12 IS PATHOGENIC AND CREATES A PREMATURE TRANSLATIONAL STOP SIGNAL (P.ARG687*) IN THE SYNGAP1 GENE |
| Zygosity: |
Heterozygous |
| Other variants: |
EHMT1, INTRON 22, C.3259-9T>G IS INTRONIC, HETEROZYGOUS AND OF UNCERTAIN SIGNIFICANCE.
PCDH19, ON EXON 1, C.667G>C (P.GLY223ARG) IS HETEROZYGOUS AND OF UNCERTAIN SIGNIFICANCE. IT REPLACES GLYCINE WITH ARGININE AT CODON 223. |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
6 MONTHS |
| Age at Diagnosis: |
3 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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| 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 |
| Respiratory and Cardiovascular Testing: |
EEG |
| Treatments and Assistive Devices |
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Communication or learning devices
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| Medications |
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LAMOTRIGINE, CLONAZEPAM, AND EPIDIOLEX |
| Family History |
| Remarks |
Clinically affected. See Phenotypic Data; heterozygous mutation in the SYNGAP1 gene c.2059C>T (p.Arg687X); unaffected mother is GM28562. |