| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
14 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
13 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: |
NEXT GENERATION SEQUENCING ANALYSIS OF COMPLEMENTARY DNA EXTRACTED FROM FIBROBLAST CELLS AND FURTHER DNA-LEVEL STUDIES REVEALED A 7.1 KB DELETION COMPRISING EXONS 4 TO 13 OF THE X-CHROMOSOMAL SLC6A8 GENE |
| Zygosity: |
Hemizygous |
| Age of Symptom Onset and Age at Diagnosis |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
| |
Seizures
|
| Additional Information: |
HULL-STRESSED HYPOTENSION AND OVERSTRETCHED CIRRHOSIS IN THE EXTREME EXTREMITIES; DYSTONE MOVEMENT DISORDERS |
| Optical and Audiological Symptoms |
| |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
| |
Global developmental delay
|
| Additional Information: |
SEVERE 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 |
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| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
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| Medications |
| Family History |
| |
EXOME AND TRANSCRIPTOME ANALYSIS INDICATE THAT MOTHER OF AFFECTED CHILD HAS A SOMATIC MOSAICISM FOR DELETION OF 7.1 KB OF SLC6A8 GENE. |
| Remarks |
See "Phenotypic Data" tab; |