| 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 |
| |
| 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 |
| Remarks |
Clinically affected; stem cell line is GM27857; see Phenotypic Data Tab. |