| Demographic Data |
| Relation to Proband |
brother |
| Age at Sampling |
13 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
6 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: |
WHOLE GENOME SEQUENCING REVEALED THAT SUBJECT HAS A HEMIZYGOUS X-LINKED DELETION IN SLC6A8: C.321_323DELCTT (P.PHE107DEL) |
| Zygosity: |
Hemizygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
6 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Seizures
|
| Additional Information: |
ABNORMAL MOVEMENTS; STATIC ENCEPHALOPATHY WITH EPILEPSY |
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
STRABISMUS |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
HYPOTONIA; HYPERFLEXIBLE |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
|
| Additional Information: |
INTELLECTUAL IMPAIRMENT; NO SPEECH |
| Gastrointestinal Symptoms |
| |
Eating difficulties
|
| Additional Information: |
RECURRENT VOMITING; DELAYED GASTRIC EMPTYING; G-TUBE FED; DIARRHEA |
| Genitourinary Symptoms |
| |
|
| Additional Information: |
MARKED ELEVATED CREATINE LEVELS IN URINE AT 12 YEARS OLD (3475.0 MMOL/MOL CN) |
| Respiratory and Cardiovascular Symptoms |
| |
Heart murmur
|
| Cognitive and Behavioral Symptoms |
| |
Autism spectrum disorder
Sensory processing disorder
|
| Additional Information: |
COGNITIVE IMPAIRMENT; SLEEP MYOCLONUS; NON-VERBAL |
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Additional Testing: |
PSYCHOLOGICAL THERAPY; ABA THERAPY |
| Medications |
| |
ACETAMINOPHEN; ALBUTEROL; CETIRIZINE; CREATINE; ERYTHROMYCIN ETHYLSUCCINATE; IRON; FLUTICASON; GABAPENTIN; IBUPROFEN; LEUCOVORIN; LEVETIRACETAM; MIDAZOLAM SYRUP; ZOFRAN; ORALYTE; OXCARBAZEPINE; MIRALAX; PREVACID |
| Family History |
| |
MATERNAL UNCLE WITH GLOBAL DEVELOPMENT DELAYS, MENTAL RETARDATION, AND AUTISTIC FEATURES; A OLDER BROTHER WITH LEARNING DIFFICULTIES, AND SPEECH THAT IS DIFFICULT TO UNDERSTAND; A BROTHER WITH SPEECH DELAY |
| Remarks |
See "Phenotypic Data" Tab; Clinically affected brother of affected brothers GM28028 (lymph) and GM28047 (lymph); Affected mother is GM28048. |