| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
10 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
5 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: |
SLC6A8, C.1145C>T (P.PRO382LEU), 8. THIS MISSENSE SEQUENCE CHANGE REPLACES PROLINE WITH LEUCINE AT CODON 382. |
| Zygosity: |
Hemizygous |
| Other variants: |
CBS, C.65A>G (P.HIS22ARG), 3 AND HETEROZYGOUS. THIS MISSENSE SEQUENCE CHANGE REPLACED HISTIDINE WITH ARGININE AT CODON 22. |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
5 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Failure to thrive
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
|
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
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| Gastrointestinal Symptoms |
| |
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| Genitourinary Symptoms |
| |
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| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Autism spectrum disorder
|
| Additional Information: |
NO SAFETY AWARENESS; EXTREMELY IMPULSIVE, HYPERACTIVE |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
MRI: NO ACUTE INTRACRANIAL PATHOLOGY. BORDERLINE THIN APPEARANCE OF THE BODY OF THE CORPUS CALLOSUM; MUCUS RETENTION CYST IN ANTERIOR RIGHT MAXILLARY SINUS; SMALL FOCUS OF OPACIFICATION IN AN ANTERIOR RIGHT ETHMOID CELL.
MRI: PERSISTENT MARKED DECREASE OF THE EXPECTED CREATINE PEAK
EXPECTED CHOLINE AND NAA PEAKS. |
| Metabolic, Hematologic, and Endocrinologic Testing: |
URINARY CREATINE ELEVATED (4,108.6 MMOL/MOL); URINARY GUANIDINOACETATE ELEVATED (221.6 MMOL/MOL) |
| Uncategorized Testing: |
MICROARRAY COMPARATIVE GENOMIC HYBRIDIZATION, RESULT:
ARR[GRCH37](1-22)X2,(XY)X1 NORMAL MALE
|
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Orthotics
Communication or learning devices
horseback therapy
|
| Surgeries |
ADENOIDS REMOVED; BIG TOENAILS REMOVED |
| Additional Testing: |
ABA THERAPY
BRACES |
| Medications |
| |
GEODON, GUANFACINE, CLONIDINE, ACYCLOVIR, MONTELUKAST, ALLEGRA, FLUTICASONE NASAL SPRAY, TRILEPTAL |
| Family History |
| Remarks |
Clinically affected. See "Phenotypic Data" Tab. Family history is unknown. Fibroblast is GM28876. |