| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
10 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
10 YR |
| 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: |
HETEROZYGOUS MUTATION IN EXON 5 OF THE SLC6A8 GENE: C.829-843DUP15 (P.V277_L281DUP); 15 NUCLEOTIDE DUPLICATION IS PREDICTED TO RESULT IN AN IN-FRAME DUPLICATION OF 5 AMINO ACIDS |
| Zygosity: |
Heterozygous
Notes: HETEROZYGOUS |
| Other variants: |
HEMIZYGOUS BENIGN VARIANT IN EXON 1 OF SLC6A8 GENE: C.1-5A>G (SNP RS3845730 |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
10 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Failure to thrive
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Ataxia
|
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Global developmental delay
|
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Autism spectrum disorder
Aggression
|
| Additional Information: |
INTELLECTUAL DISABILITY, NON-VERBAL |
| Additional Information |
| Uncategorized Symptoms: |
SENSORY ISSUES |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Communication or learning devices
|
| Medications |
| Family History |
| Remarks |
See Phenotypic Data tab. |