| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
2 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
15 MO |
| Age at Diagnosis(If not a control) |
34 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Hispanic/Latino |
| Racial Category |
White |
| Country |
BRAZIL |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE EXOME SEQUENCING REVEALED A VARIANT IN THE GENE SLC6A8, C.200G>A (P.GLY67ASP) IN THE X CHROMOSOME AT POSITION 153688774 |
| Zygosity: |
Hemizygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
18 MONTHS |
| Age at Diagnosis: |
34 MONTHS |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
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| Additional Information: |
EEG NORMAL; MAGNETIC RESONANCE SPECTROSCOPY SHOWED LOW PEAK OF CREATINE IN BRAIN PARENCHYMA; |
| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Additional Information: |
DYSPRAXIA |
| Developmental Milestones |
| |
Delayed speech and language development
|
| Additional Information: |
LANGUAGE DELAY; MOTOR SKILLS DELAY |
| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Medications |
| |
ARGININE; GLYCINE; CREATINE; BETAINE |
| Family History |
| Remarks |
Clinically affected; see "Phenotypic Data" tab; fibro is GM28466; asymptomatic at risk mother is GM28468 (fibro) and GM28469 (LCL). Unaffected father is GM28471 (LCL). |