| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
7 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
1 YR |
| Age at Diagnosis(If not a control) |
4 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
LUXEMBOURG |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
PATHOGENIC MUTATION FOUND IN SLC6A8 C.1094_1095INSGGAGCGTGGGCTTCTC (P.PHE365LEUFS*105) |
| Zygosity: |
Other
Notes: HEMIZYGOUS |
| Age of Symptom Onset and Age at Diagnosis |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
Strabismus
|
| Neurological Symptoms |
| |
Hypotonia
Seizures
|
| Additional Information: |
MAY HAVE EXPERIENCED SINGLE FEBRILE SEIZURE. NO EPILEPTIC ACTIVITY WAS FOUND ON EEG. |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed gross motor skills
Abnormal weight for age
|
| Additional Information: |
ATAXIC GAIT |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Additional Information: |
DIAGNOSED WITH RENAL TUBULAR ACIDOSIS AT ONE YEAR OF AGE AND STARTED ON BICARBONATE. |
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Autism spectrum disorder
|
| Additional Information: |
NON-VERBAL |
| Additional Information |
| Testing Performed |
| Uncategorized Testing: |
INCREASED CREATINE/CREATINE RATIO FOUND IN URINE AND MRS OF BRAIN SHOWED STRONGLY REDUCED CREATINE PEAK |
| Treatments and Assistive Devices |
| |
|
| Additional Testing: |
TYMPANOSTOMY TUBES INSERTED TWICE. |
| Medications |
| |
IRON SUPPLEMENTS |
| Family History |