Demographic Data |
Relation to Proband |
mother |
Age at Sampling |
41 YR |
Sex |
Female |
Age at Diagnosis(If not a control) |
34 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 A HETEROZYGOUS PATHOGENETIC VARIANT (C.321_323DELCTT) IN THE SLC6A8 GENE RESULTING IN A DELETION MUTATION (P.PHE107DEL) |
Zygosity: |
Heterozygous |
Age of Symptom Onset and Age at Diagnosis |
Age of Symptom Onset: |
CHILDHOOD |
Age at Diagnosis: |
34 YEARS |
In Utero History Information |
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Birth History Information |
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Dysmorphic Features |
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Neurological Symptoms |
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Optical and Audiological Symptoms |
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Musculoskeletal Symptoms |
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Developmental Milestones |
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Gastrointestinal Symptoms |
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Constipation
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Additional Information: |
TROUBLE LOSING WEIGHT |
Genitourinary Symptoms |
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Respiratory and Cardiovascular Symptoms |
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Cognitive and Behavioral Symptoms |
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Additional Information |
Uncategorized Symptoms: |
LEARNING DIFFICULTIES IN SCHOOL DURING CHILDHOOD |
Testing Performed |
Metabolic, Hematologic, and Endocrinologic Testing: |
NORMAL CREATINE LEVELS IN PLASMA AND URINE |
Treatments and Assistive Devices |
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Occupational therapy Physical therapy Speech therapy
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Additional Testing: |
PSYCHOLOGICAL THERAPY |
Medications |
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L-ARGININE |
Family History |
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BROTHER WITH INTELLECTUAL DISABILITY AND AUTISTIC FEATURES; TWO MATERNAL AUNTS HAVE MENTAL ILLNESS; FIRST SON HAS HIRSCHSPRUNG DISEASE; SECOND SON HAS X-LINKED CREATINE TRANSPORTER DEFICIENCY; THIRD SON HAD AN UMBILICAL HERNIA, EAR TAGS, AND FLUID ON KIDNEY, ALSO HAS SPEECH DELAYS; FOURTH SON HAS SPEECH DELAY; FIFTH SON HAS PROBLEMS WITH CONSTIPATION AND VOMITTING |
Remarks |
See "Phenotypic Data" Tab; Affected mother of clinically affected sons GM28047 (lymph), GM28028 (lymph) and GM28061 (lymph). |