| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
8 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
9 MO |
| Age at Diagnosis(If not a control) |
2 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: |
TCF4, C.1841C>T (P.A614V), MISSENSE, EXON 18 |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
9 MONTHS |
| Age at Diagnosis: |
2 YEARS |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
| |
Strabismus
|
| 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: |
DEVELOPMENTAL DELAY |
| 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: |
URINE CREATININE: NORMAL
URINE ORGANIC ACID: NORMAL
PLASMA AMINO ACIDS: UNREMARKABLE
ACYCLCARNITINE: NORMAL |
| Uncategorized Testing: |
ANGELMAN SYNDROME CRITICAL REGION: NORMAL METHYLATION
CGG REPEAT EXPANSION IN FMR1 GENE: NEGATIVE
KARYOTYPING AND MICROARRAY: NORMAL MALE |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Orthotics
|
| Surgeries |
EYE SURGERY TO CORRECT STRABISMUS |
| Medications |
| Family History |
| Remarks |
Clinically affected; heterozygous for a missense de novo variant of unknown significance c.1841C>T (p.A614V) in exon 18 of TCF4 gene; homozygous for benign variant IVS8+137G>A in ZEB2 gene; onset of symptoms at 9 months of age when milestones were not met; diagnosed at 2 years of age; tested for: urine creatinine, plasma amino acids profile is unremarkable, normal acyclcarnitine profile, and normal urine organic acid; normal methylation pattern in AS critical region; negative for CGG repeat expansion in FMR1 gene; tested by karyotyping and microarray; treatment and management: physical therapy, occupational therapy, orthotics, speech language therapy (regularly, 1+ x/week); eye surgery to correct strabismus; same subject as GM26023 (fibroblast). |