| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
3 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
3 YR |
| Age at Diagnosis(If not a control) |
3 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
SBDS, C.183_184_DELINSCT (P.K62X), NONSENSE, 2 |
| Zygosity: |
Heterozygous |
| Other variants: |
SBDS, C.258+2T>C, ABERRANT SPLICING |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
3 YEARS |
| Age at Diagnosis: |
3 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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| 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: |
OVERWEIGHT (BMI 95 PERCENTILE) |
| Testing Performed |
| Metabolic, Hematologic, and Endocrinologic Testing: |
PANCREATIC ELASTASE, FECAL: 58 UG/G (LOW)
VITAMIN E, TOCOPHEROL: 10.2 MG/L (HIGH)
VITAMIN D: 25 NG/ML (LOW)
ALANINE TRANSAMINASE: 85 IU/L (HIGH)
ASPARTATE AMINOTRANSFERASE: 39 IU/L (HIGH)
MEAN CORPUSCULAR HEMOGLOBIN: 26.7 PG (LOW)
RETICULOCYTE COUNT: 0.51% (LOW)
ULTRASOUND RIGHT UPPER QUADRANT: NO ACUTE FINDING |
| Treatments and Assistive Devices |
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| Medications |
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MULTIVITAMIN WITH FLUORIDE |
| Family History |
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YOUNGER SISTER IS DIAGNOSED WITH SHWACHMAN-DIAMOND SYNDROME 1 (FAILURE TO THRIVE) |
| Remarks |
Slightly affected. Waking up in the middle of night crying. No pain or discomfort. Excellent appetite. No vomiting or diarrhea. No signs of fat malabsorption. See "Phenotypic Data" tab; affected sibling is GM28607 (lymph). Compound heterozygous mutation in SBDS |