| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
19 YR |
| Sex |
Male |
| Racial Category |
Asian, Other |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
SEPN1, C.1282-2A>C, SPLICING |
| Zygosity: |
Homozygous |
| Other variants: |
SEPN1, C.1282-41C>T, SPLICING, HOMOZYGOUS |
| 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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| Walking Without Assistance: |
Achieved and maintained |
| 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 |
| Neurological Testing: |
BRAIN NOT AFFECTED |
| Respiratory and Cardiovascular Testing: |
HEART NOT AFFECTED |
| Treatments and Assistive Devices |
| |
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| Additional Testing: |
BIPAP MACHINE FOR BREATHING SUPPORT, MOST/ALL NIGHTS, LESS THAN 12 HOURS |
| Medications |
| Family History |
| Remarks |
Clinically affected child of unaffected father GM27119. Homozygous double mutation in the SEPN1 gene: c.1282-2A>C and c.1282-41C>T. |