| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
1 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
8 MO |
| Age at Diagnosis(If not a control) |
1 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Hispanic/Latino |
| Racial Category |
White |
| Country |
CHILE |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE EXOME SEQUENCING (WES) REVEALED AN AUTOSOMAL DOMINANT DE NOVO MISSENSE MUTATION IN EXON 2 OF THE FOXG1 GENE: C.569T>A (P.ILE190ASN) NOT DETECTED IN EITHER PARENT. NO MITOCHONDRIAL VARIANTS OF MEDICAL RELEVANCE WERE IDENTIFIED AND NO LARGE DELETIONS WERE IDENTIFIED IN THE MITCHONDRIAL GENOME. |
| Zygosity: |
Heterozygous
Notes: CHR14:29237054, REF GRCH37; POLYPHEN-2: PROBABLY DAMAGING; SIFT: DELETERIOUS |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
8 MONTHS |
| Age at Diagnosis: |
DIAGNOSED BY A NEUROLOGIST AT 1 YEAR OF AGE |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
|
| Additional Information: |
EARLY DEVELOPMENT OF CHOREA/ATHETOSIS WITH OROLINGUAL DYSKINESIA |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
|
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Uncategorized Symptoms: |
SEVERE DIFFICULTIES IN NOURISHMENT |
| Testing Performed |
| Neurological Testing: |
BRAIN MRI SHOWED CORPUS CALLOSUM ABNORMALITIES; NORMAL EEG |
| Treatments and Assistive Devices |
| |
|
| Additional Testing: |
TREATMENT BY A KINESIOLOGIST |
| Medications |
| Family History |
| |
THE VARIANT WAS NOT DETECTED IN EITHER PARENT. |
| Remarks |
See Phenotypic Data tab. Unaffected father GM27698 and Unaffected mother GM27699; lymph is GM27871. |