| Demographic Data |
| Relation to Proband |
brother |
| Age at Sampling |
5 YR |
| Sex |
Male |
| 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 EXOME 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: |
BIRTH |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Failure to thrive
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Seizures
|
| Additional Information: |
ABSENCE SEIZURES |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Global developmental delay
|
| Gastrointestinal Symptoms |
| |
Constipation
|
| Genitourinary Symptoms |
| |
|
| Additional Information: |
MARKED ELEVATED CREATINE LEVELS IN URINE AT 4 WEEKS OF AGE (3420.0 MMOL/MOL CN) |
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
NON-VERBAL; EXAGGERATED STARTLE WITHOUT STIMULUS; |
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
|
| Additional Testing: |
PSYCHOLOGICAL THERAPY |
| Medications |
| Family History |
| |
FIVE BROTHERS: A BROTHER WITH HIRSCHSPRUNG DISEASE; TWO BROTHERS WITH X-LINKED CREATINE TRANSPORTER DEFICIENCY; A BROTHER WITH AN UMBILICAL HERNIA, EAR TAGS, FLUID ON KIDNEYS, AND SPEECH DELAYS; A BROTHER WITH SPEECH DELAY; MOTHER CARRIES SLC6A8 GENE; MATERNAL UNCLE WITH INTELLECTUAL DISABILITY, AUTISTIC FEATURES, AND SEIZURES WHEN YOUNGER; MATERNAL GRANDMOTHER HAD TWO SISTERS WITH MENTAL ILLNESS; PATERNAL COUSIN HAS LEARNING DISABILITIES AND BEHAVIORAL PROBLEMS; PATERNAL GRANDMOTHER HAS A BROTHER WITH HIRSCHSPRUNG; NO HISTORY OF CONSANGUINITY |
| Remarks |
See "Phenotypic Data" Tab; Clinically affected brother of affected brothers GM28047 (lymph) and GM28061 (lymph); Affected mother is GM28048. |