| Demographic Data |
| Relation to Proband |
father |
| Age at Sampling |
47 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
44 YR |
| 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
UNAFFECTED CARRIER |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age at Diagnosis: |
44 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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| Additional Information: |
SIGNS OF SKELETAL ANOMALIES ON FEET AND KNEES |
| 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 HYPERTENSION, DYSPNEA-PALPITATIONS, VESICULAR BREATHING SOUNDS, SONOROUS KNOCKING SOUND |
| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Respiratory and Cardiovascular Testing: |
ECHOCARDIOGRAPHY - NORMAL
EKF - NORMAL FREQUENCY SINUS RHYTHM, INCOMPLETE RSB.
CAROTID DOPPLER - NO ATHEROSCLEROTIC CHANGES, NO HEMODYNAMICALLY RELEVANT STENOSES.
FORMER NICOTINE CONSUMPTION, ARTERIAL HYPERTENSION.
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| Uncategorized Testing: |
WHOLE BODY PLETHYSMOGRAPHY LUNG FUNCTION TEST - HYPERVENTILATION |
| Treatments and Assistive Devices |
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| Medications |
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RAMIPRIL |
| Family History |
| Remarks |
See "phenotypic data tab" |