| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
6 MO |
| Sex |
Male |
| 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: |
DNM2, C.1115T>C (P.PHE372SER), MISSENSE |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
AT BIRTH |
| 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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| Additional Information: |
BRAIN ABNORMALITY |
| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
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| Holding Head Up Without Assistance: |
Not achieved and not maintained |
| Sitting Without Assistance: |
Not achieved and not maintained |
| Walking Without Assistance: |
Not achieved and not maintained |
| Running: |
Not achieved and not maintained |
| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Additional Information: |
CARDIAC ABNORMALITIES |
| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
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| Surgeries |
TRACH TUBE |
| Additional Testing: |
24 HOUR BREATHING SUPPORT |
| Medications |
| Family History |
| Remarks |
Clinically affected; onset of symptoms at birth; no motor function ever achieved; cardiac and brain involvement; de novo mutation in the DNM2 gene: c.1115T>C (likely pathogenic), c.2139 T>C (likely benign), c.858-12C>A; has 24 hour breathing support with tracheal tube and full ventilator use; deceased at close to 3 years of age; parents (not in repository) are negative for any of the variants in the subject. |