| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
5 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
15 MO |
| Age at Diagnosis(If not a control) |
16 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
GERMANY |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
TBX4, C.291C>G, P.(PHE97LEU), EXON 0 |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
15 MONTHS |
| Age at Diagnosis: |
16 MONTHS |
| 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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| Additional Information: |
SIGNS OF SKELETAL ANOMALIES ON FEET |
| 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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| Additional Information: |
PULMONARY ARTERIAL HYPERTENSION, SIGNS OF ANOMALIES IN THE LUNGS, PARTIAL VASOREACTIVITY |
| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Uncategorized Symptoms: |
DYSTROPHY AND FAILURE TO THRIVE,
IRON DEFICIENCY |
| Testing Performed |
| Respiratory and Cardiovascular Testing: |
RIGHT HEART CATHETER (CONFIRMED PULM. ARTERIAL HYPERTENSION - INCREASED END DIASTOLIC VALUE IN RIGHT VENTRICLE WITH PULMONARY RESISTANCE); EKG (CONFIRMED RIGHT VENTRICULAR HYPERTROPHY AND T-INVERSION IN V1-V3), ECHOCARDIOGRAPHY (CONFIRMED CONCENTRATED HYPERTROPHY IN RIGHT CHAMBER; DELICATE AORTIC & PULMONARY VALVES WITH LAMINAR FLOW; DELICATE ATRIOVENTRICULAR VALVE), ATRIAL FLUTTER; POOR BLOOD PRESSURE |
| Uncategorized Testing: |
MOLECULAR GENETIC TESTING: WHOLE EXOME SEQUENCING |
| Treatments and Assistive Devices |
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| Medications |
| |
AMLODIPINE, TADALAFIL, MACITENTAN, SELEXIPAG, SPIRONOLACTONE.
OTHER: SUPPLEMENTAL OXYGEN |
| Family History |
| Remarks |
Unaffected mother (GM29204 & GM29334); Unaffected father (GM29205). |