| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
15 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
5 MO |
| Age at Diagnosis(If not a control) |
11 YR |
| Racial Category |
White |
| Country |
CANADA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
SEQUENCING WITH A MICROCEPHALY SEQUENCING PANEL REVEALED A PATHOGENIC DOMINANT MUTATION IN FOXG1 GENE: C.490DUP (P.GLU154GLYFS*301); CONFIRMED BY SANGER SEQUENCING |
| Zygosity: |
Heterozygous |
| Other variants: |
BENIGN VARIANT OF UNKNOWN SIGNIFICANCE (VOUS) IN THE FOXG1 GENE: C.376G>A (P.GLY126SER) |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
5 MONTHS |
| Age at Diagnosis: |
11 YEARS |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
| |
Microcephaly
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| Neurological Symptoms |
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| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Additional Information: |
SURGERY: HIP DYSPLASIA |
| 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 |
| Neurological Testing: |
IMAGING, EEG |
| Respiratory and Cardiovascular Testing: |
EKG |
| Uncategorized Testing: |
BIOPSY |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Orthotics
Communication or learning devices
|
| Additional Testing: |
OTHER ASSISTIVE DEVICES - GTUBE, CPAP |
| Medications |
| |
BACLOFEN, LANSOPRAZOLE, DOMPERIDONE |
| Family History |
| Remarks |
See Phenotypic Data tab. |