| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
10 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
10 MO |
| Age at Diagnosis(If not a control) |
5 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
Asian |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
SPLICE MUTATION IN SLC6A8 GENE, C.1016+2T>C, INTRON 6 |
| Zygosity: |
Hemizygous |
| Other variants: |
HERC2, C.9163+1G>A, HETEROZYGOUS AND NOT OF CLINICAL SIGNIFICANCE. |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
10 MONTHS |
| Age at Diagnosis: |
5 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Additional Information: |
LOW BIRTH RATE |
| Dysmorphic Features |
| |
Microcephaly
|
| Additional Information: |
NORMAL GROWTH PARAMETERS LOW OFC, ABNORMAL DEVELOPMENT. MISSED MILESTONES |
| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
WIDE-BASED GAIT; LOW MUSCLE TONE BUT NORMAL STRENGTH |
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
INTERMITTENT EXOTROPIA, NORMAL VISION, NO AMBLYOPIA; RED REFLEXES PRESENT |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
DENTAL MALOCCLUSION WITH A HIGH ARCHED PALATE |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed gross motor skills
|
| Additional Information: |
WAS NOT CRAWLING OR ROLLING OVER AT 1 YR. WALKED AT 20 MONTHS. AT 3 YRS, COULD NOT GO UP/DOWN STAIRS INDEPENDENTLY. AT 32 MONTHS, BEGAN SAYING MANY WORDS AND SPEAKING FEW SENTENCES, FEEDS SELF, AND FOLLOWS 1 STEP DIRECTIONS. |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Behavioral problems
|
| Additional Information: |
INTELLECTUAL DISABILITIES LEVEL NOT NOTED |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
UNREMARKABLE UNENHANCED MRI OF BRAIN; UNREMARKABLE MRA OF THE CIRCLE OF WILLIS; |
| Optical and Audiological Testing: |
AUDITORY BRAINSTEM RESPONSE HEARING TEST NORMAL |
| Respiratory and Cardiovascular Testing: |
ECHOCARDIOGRAM NORMAL |
| Metabolic, Hematologic, and Endocrinologic Testing: |
CREATINE KINASE 131 U/L; AMMONIA NORMAL; COMPREHENSIVE METABOLIC SCREEN NORMAL; CK NORMAL; LACTIC ACID 2.8 AND PYRUVATE 0.200; URINE ORGANIC ACIDS NORMAL |
| Uncategorized Testing: |
COMPARATIVE GENOMIC HYBRIDIZATION WITH LIMITED BLOOD HIGH RESOLUTION - 46,XY.ARR(1-22)X2,(XY)X1 (NORMAL ANALYSIS); METHYLATION CHROMOSOME 15 NORMAL PATTERN |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Orthotics
|
| Surgeries |
BILATERAL MYRINGOTOMY WITH INSERTION OF TYMPANOSTOMY TUBES |
| Medications |
| Family History |
| Remarks |
Clinically affected. See "Phenotypic Data" Tab |