| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
15 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
9 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.1290_1309DEL20, P.D431LFSX27, EXON 9 |
| Zygosity: |
Hemizygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
9 YEARS OLD |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Hypotonia
Seizures
|
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
NON VERBAL |
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
|
| Additional Information: |
NONVERBAL
VARIED FLEXIBILITY
DIFFICULTY WITH MOTOR SKILLS |
| Gastrointestinal Symptoms |
| |
Constipation
|
| Additional Information: |
VOMITTING |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Autism spectrum disorder
Learning disability
|
| Additional Information: |
INTELLECTUAL DISABILITY
IMPULSIVITY
SELF-INJURIES |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
DIAGNOSTIC TESTING/ XOMEDX/ WHOLE EXOME SEQUENCING ANALYSIS |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Orthotics
Communication or learning devices
|
| Surgeries |
EAR TUBES (NOW OUT)
DENTAL SURGERY TO REMOVE BABY TEETH WITH CAVITIES |
| Medications |
| |
CREATINE, L-ARGININE, GLYCINE, KEPPRA, CBD OIL, MAGNESIUM CITRATE |
| Family History |
| Remarks |
Clinically affected. De novo hemizygous mutation C.1290_1309del20 (p.D431LfsX27) mutation in the SLC6A8 gene. Used orthotics inserts when younger. Used ear tubes before. when See "Phenotypic Data" Tab |