Demographic Data |
Relation to Proband |
proband |
Age at Sampling |
4 YR |
Sex |
Male |
Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
Racial Category |
Asian |
Country |
USA |
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Data Elements |
Clinical Element Type: General NIGMS Catalog Remarks |
(Baseline) |
Mutation Information |
Gene, variant, consequence, and exon number: |
WHOLE GENOME SEQUENCING REVEALED X-LINKED HEMIZYGOUS MUTATION IN SLC6A8 CHRX:152959835-152960127, NOVEL VARIANT MOTHER IS LIKELY MOSAIC FATHER IS NEGATIVE; C3ORF20 CHR3:14798910, NOVEL VARIANT MOTHER IS NEGATIVE FATHER IS HETEROZYGOUS; C3ORF20 CHR3:14768516, RS13939744, MOTHER IS HETEROZYGOUS FATHER IS NEGATIVE; GNL2 CHR1:38039969, NOVEL VARIANT MOTHER IS NEGATIVE FATHER IS HETEROZYGOUS; GNL2 CHR1:38034840, RS371807683, MOTHER IS HETEROZYGOUS, FATHER IS NEGATIVE; HOMOPLASMIC VARIANT OF UNCERTAIN SIGNIFICANCE: M.4277T>C (TRNA ILE) |
Zygosity: |
Other Notes: MOSAIC MUTATION IS PRESENT IN 10.38% OF CELLS |
Age of Symptom Onset and Age at Diagnosis |
Age of Symptom Onset: |
1 YEAR |
Age at Diagnosis: |
2.5 YEARS |
In Utero History Information |
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Additional Information: |
MOTHER SCREENED FOR ELEVATED TSH; WAS ON THYROID REPLACEMENT THERAPY DURING PREGNANCY |
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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Additional Information: |
SAT UNSUPPORTED AT 8 MONTHS, BABBLED AT 10 MONTHS, CRUISED AT 11 MONTHS, CRAWLED AT 13-15 MONTHS; USED PINCER GRASP AT 12 MONTHS, AND WALKED INDEPENDENTLY AT 28 MONTHS; RECENTLY LOST SOME FINE MOTOR SKILLS; AT 1 YEAR AND 5 MONTHS OLD WAS AT THE FOLLOWING AGE-EQUIVALENT DEVELOPMENTAL LEVELS: 13 MONTHS OLD FOR ADAPTIVE BEHAVIOR, 10 MONTHS OLD FOR COGNITIVE, RECEPTIVE, COMMUNICATION, SOCIAL, AND GROSS MOTOR, 9 MONTHS OLD FOR EXPRESSIVE COMMUNICATION, 8 MONTHS OLD FOR FINE MOTOR; HISTORY OF BEING SMALL FOR AGE CATEGORY |
Gastrointestinal Symptoms |
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Genitourinary Symptoms |
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Respiratory and Cardiovascular Symptoms |
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Cognitive and Behavioral Symptoms |
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Additional Information |
Testing Performed |
Metabolic, Hematologic, and Endocrinologic Testing: |
ACYLCARNITINE PROFILE SHOWED BORDERLINE LOW FREE CARNITINE |
Treatments and Assistive Devices |
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Occupational therapy Physical therapy Speech therapy Orthotics Communication or learning devices
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Additional Testing: |
MAGNETIC RESONANCE SPECTROSCOPY TESTING SHOWED LOW CREATINE PEAK; PSYCHOLOGICAL THERAPY; EAR TUBE SURGERY |
Medications |
Family History |