| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
2 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
19 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE EXOME SEQUENCING DETECTED A MUTATION IN SLC6A1 C.863C>T (P.ALA288VAL) |
| Zygosity: |
Heterozygous
Notes: VARIANT IS POSSIBLY MOSAIC IN MOTHER |
| Other variants: |
WHOLE EXOME SEQUENCING REVEALED A PATHOGENIC VARIANT IN TRIO C.8119C>T (P.ARG2707*) |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
AT BIRTH |
| Age at Diagnosis: |
19 MONTHS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Chorea
|
| Additional Information: |
TREMOR; DYSKINESIAS; EXTRA-AXIAL CEREBROSPINAL FLUID ACCUMULATION |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
|
| Gastrointestinal Symptoms |
| |
Gastrointestinal reflux
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Neurological Testing: |
ABNORMAL EEG (MULTIFOCAL EPILEPTIC DISCHARGES) |
| Respiratory and Cardiovascular Testing: |
NORMAL EKG |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Medications |
| Family History |