| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
4 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
6 MO |
| Age at Diagnosis(If not a control) |
1 YR |
| 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 REVEALED DE NOVO PATHOGENIC VARIANT IN SLC6A8, C.1222_1224DELTTC (P.F408DEL) IN EXON 8 |
| Zygosity: |
Other
Notes: HEMIZYGOUS |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
6 MONTHS |
| Age at Diagnosis: |
1 YEAR |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Hypotonia
Seizures
Sleep abnormalities
|
| Additional Information: |
RARE MULTIFOCAL EPILEPTIFORM DISCHARGES AND DIFFUSE ENCEPHALOPATHY FOUND BY EEG; PARTIAL SYMPTOMATIC EPILEPSY |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed gross motor skills
|
| Gastrointestinal Symptoms |
| |
Constipation
Eating difficulties
|
| Genitourinary Symptoms |
| |
|
| Additional Information: |
LEFT ORCHIECTOMY FOR TESTICULAR REMNANT |
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Behavioral problems
Autism spectrum disorder
Sleep disturbances
|
| Intellectual Disability: |
Mild |
| Additional Information |
| Uncategorized Symptoms: |
LEFT ORCHIECTOMY FOR TESTICULAR REMNANT |
| Testing Performed |
| Neurological Testing: |
EEG |
| Cognitive and Behavioral Testing: |
ADOS; BSID-III, CGCL; VABS-3; SCQ |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Medications |
| |
LEVETIRACETAM (KEPPRA); CREATINE GLUCONATE; ARGININE BASE POWDER; LORAZEPAM (ATIVAN) |
| Family History |
| |
HEARING PROBLEMS; LEARNING PROBLEMS; MILD DEPRESSION AND ANXIETY |