| 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 |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Additional Information: |
OVAL EARS |
| Neurological Symptoms |
| |
|
| Additional Information: |
NO EPILEPSY |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Global developmental delay
|
| Walking Without Assistance: |
Achieved and maintained |
| Additional Information: |
12 MONTHS BEHIND IN DEVELOPMENT |
| Gastrointestinal Symptoms |
| |
Gastrointestinal reflux
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Uncategorized Symptoms: |
NORMAL HEAD CIRCUMFERENCE SIZECHILD IS ABLE TO BABBLE |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| 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). |