| Demographic Data |
| Relation to Proband |
father |
| Age at Sampling |
36 YR |
| Sex |
Male |
| Racial Category |
White |
| Country |
POLAND |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Age of Symptom Onset and Age at Diagnosis |
| 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 |
| Testing Performed |
| Treatments and Assistive Devices |
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| Medications |
| Family History |
| Remarks |
Father of GM30361. Has a pathogenic TGFB3 mutation c.952C>G, p.(Arg318Gly). Unaffected spouse is GM30362. Older daughter (sibling of GM30361) is GM30376 also has the TGFB3 mutation. |