| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
3 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
9 MO |
| Age at Diagnosis(If not a control) |
2 YR |
| Racial Category |
More than one race |
| Country |
USA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE EXOME SEQUENCING OF GENOMIC DNA REVEALED A HEMIZYGOUS, LIKELY PATHOGENIC VARIANT (C.342G>C) IN EXON 2 OF THE SLC6A8 GENE (RNA REFSEQ NM_005629.3) RESULTING IN A MISSENSE MUTATION (P.GLN114HIS). UNAFFECTED MOTHER IS POSSIBLY MOSAIC FOR THE P.Q114H VARIANT IN THE SLC6AB GENE. |
| Zygosity: |
Hemizygous
Notes: HEMIZYGOUS FOR X-LINKED DISORDER |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
9 MONTHS |
| Age at Diagnosis: |
2 YEARS |
| 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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Hypotonia
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| Additional Information: |
TRUNCAL HYPOTONIA |
| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
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Delayed speech and language development
Global developmental delay
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| 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: |
FREQUENT TEMPER TANTRUMS |
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
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| Medications |
| Family History |
| Remarks |
See "Phenotypic Data" tab |