| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
2 YR |
| Sex |
Female |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
More than one race |
| Country |
ITALY |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
C.670G>A (P.GLY224SER) IN FOXG1 GENE |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
6 MONTHS |
| Age at Diagnosis: |
9 MONTHS |
| 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
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| Medications |
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ADRENOCORTICOTROPIC (ACTH) |
| Family History |
| Remarks |
Clinically affected; onset of symptoms at 6 months of age; diagnosed by a geneticist at 9 months of age; gross motor delay; infantile /epileptic spasms; management includes: physical therapy, occupational therapy, and speech language therapy; heterozygous c.670G>A (p.Gly224Ser) variant found in FOXG1 gene; medications include adrenocorticotropic hormone (ACTH); LCL is GM27325 and iPSC is GM28577; mother is GM27326. |