| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
3 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
1 MO |
| Age at Diagnosis(If not a control) |
16 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
SEQUENCE ANALYSIS REVEALED A HEMIZYGOUS, PATHOGENIC VARIANT (C.1540 C>T) IN THE SLC6A8 GENE RESULTING IN A NONSENSE MUTATION (P.ARG541X). THIS SEQUENCE CHANGE CREATES A PREMATURE TRANSLATIONAL STOP SIGNAL AND IT IS EXPECTED TO RESULT IN AN ABSENT OR DISRUPTED PROTEIN PRODUCT. |
| Zygosity: |
Hemizygous |
| Other variants: |
SEQUENCE ANALYSIS REVEALED A HETEROZYGOUS,VARIANT OF UNCERTAIN SIGNIFICANCE (C.130 C>T) IN THE SLC25A22 GENE RESULTING IN A MISSENSE MUTATION (P.ARG44CYS). THIS SEQUENCE CHANGE REPLACES ARGININE WITH CYSTEINE AT CODON 44 |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
1 MONTH |
| Age at Diagnosis: |
16 MONTHS |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
| |
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| Neurological Symptoms |
| |
Hypotonia
Seizures
|
| Optical and Audiological Symptoms |
| |
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| Musculoskeletal Symptoms |
| |
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| Developmental Milestones |
| |
Delayed speech and language development
Abnormal weight for age
|
| Additional Information: |
LOW WEIGHT |
| 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: |
INTELLECTUAL DISABILITY |
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
Speech therapy
|
| Medications |
| |
CLONIDINE; PROPRANOLOL; DIAZEPAM |
| Family History |
| Remarks |
Clinically affected. See "Phenotypic Data" tab. Family history unknown. |