| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
2 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
6 MO |
| Age at Diagnosis(If not a control) |
1 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
BRAZIL |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
FOXG1, C.85_90DELCAGAACINSA (P.GIN29ARGFS*90) |
| Zygosity: |
Heterozygous
Notes: WHOLE EXOME SEQUENCING |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
6 MONTHS |
| Age at Diagnosis: |
1 YEAR |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
Microcephaly
|
| Neurological Symptoms |
| |
|
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Global developmental delay
|
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Uncategorized Testing: |
G-BANDING ANALYSIS REVEALED A KARYOTYPE OF 46, XX. AFFYMETRIX CYTOSCAN 750K ARRAY ANALYSIS REVEALED A KARYOTYPE OF ARR[HG19] 13Q21.2(60,411,486-60,688,042)X1. |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Additional Testing: |
PSYCHOLOGICAL THERAPY |
| Medications |
| Family History |