| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
13 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
1 YR |
| Age at Diagnosis(If not a control) |
3 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
GERMANY |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
SANGER SEQUENCING REVEALED AN X-LINKED HEMIZYGOUS MUTATION IN EXON 12 OF SLC6A8, C.1667G>A, P.TRP556X |
| Zygosity: |
Other
Notes: HEMIZYGOUS |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
1 YEAR |
| Age at Diagnosis: |
3 YEARS; DIAGNOSED BY A PEDIATRIC NEUROLOGIST |
| In Utero History Information |
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| Birth History Information |
| |
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| Dysmorphic Features |
| |
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| Neurological Symptoms |
| |
|
| Optical and Audiological Symptoms |
| |
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| Musculoskeletal Symptoms |
| |
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| Developmental Milestones |
| |
Global developmental 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 |
| |
Autism spectrum disorder
|
| Additional Information |
| Testing Performed |
| Metabolic, Hematologic, and Endocrinologic Testing: |
MR SPRCTROSCOPY DETECTED: LOW CREATINE PEAK; HIGH CREATINE EXCRETION; CEREBRAL CREATINE DEFICIENCY; INCREASED URINARY CREATINE/CREATININE RATIO |
| Uncategorized Testing: |
NORMAL KARYOTYPE: 46 XY |
| Treatments and Assistive Devices |
| |
Speech therapy
Communication or learning devices
|
| Additional Testing: |
COMMUNICATION DEVICE: TALKER |
| Medications |
| |
GUANFACINE 2 UG/DAY |
| Family History |
| |
SAME MUTATION WAS FOUND IN THE UNAFFECTED MOTHER IN A HETEROZYGOUS STATE. |
| Remarks |
See Phenotypic Data tab; unaffected carrier mother is GM27867 (fibro) and GM27868 (lymph); proband fibro is GM27865. |