Demographic Data |
Relation to Proband |
proband |
Age at Sampling |
26 MO |
Sex |
Male |
Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
Racial Category |
White |
Country |
NETHERLANDS |
|
Data Elements |
Clinical Element Type: General NIGMS Catalog Remarks |
(Baseline) |
Mutation Information |
Gene, variant, consequence, and exon number: |
FOXG1, C.623A>G, P.TYR208CYS, MISSENSE |
Age of Symptom Onset and Age at Diagnosis |
Age at Diagnosis: |
19 MONTHS OLD |
In Utero History Information |
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Birth History Information |
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Dysmorphic Features |
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Additional Information: |
OVAL EARS |
Neurological Symptoms |
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Additional Information: |
NO EPILEPSY |
Optical and Audiological Symptoms |
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Musculoskeletal Symptoms |
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Developmental Milestones |
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Global developmental delay
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Walking Without Assistance: |
Achieved and maintained |
Additional Information: |
12 MONTHS BEHIND IN DEVELOPMENT |
Gastrointestinal Symptoms |
|
Gastrointestinal reflux
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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 |
Uncategorized Symptoms: |
NORMAL HEAD CIRCUMFERENCE SIZE BR> BR>CHILD IS ABLE TO BABBLE |
Testing Performed |
Treatments and Assistive Devices |
|
Occupational therapy Physical therapy Speech therapy
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Additional Testing: |
MYRINGOTOMY |
Medications |
|
ERYTHROMYCIN, FORLAX |
Family History |
Remarks |
Clinically affected; 19 months old at time of diagnosis; developmental delay, one year behind; reflux issues; able to walk assisted; normal growth and head circumference; no epilepsy; whole exome sequencing found heterozygous missense variant in FOXG1 gene c.623A>G (p.Tyr208Cys); physical, occupational, and speech language therapy used; medications include forlax and erythromycin; ear tubes were replaced; lymph (GM27379). |