| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
10 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
2 YR |
| 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: |
UBE3A, C.1090G>T (P.GLU364X), NONSENSE |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
AT BIRTH |
| Age at Diagnosis: |
2 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 |
| Treatments and Assistive Devices |
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Occupational therapy
Physical therapy
Speech therapy
Communication or learning devices
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| Medications |
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KEPPRA; ONFI |
| Family History |
| Remarks |
Clinically affected. See "Phenotypic Data" tab. Heterozygous c.1090G>T (p.Glu364X) mutation in the UBE3A gene. Diagnosed by geneticists. |