| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
23 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
6 YR |
| Age at Diagnosis(If not a control) |
6 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
FINLAND |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
CHM, C.1609+2DUPT, SPLICING, INTRON 13 |
| Zygosity: |
Hemizygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
6 YEARS |
| Age at Diagnosis: |
6 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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Defective vision
Blindness
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| Additional Information: |
SENSITIVITY TO LIGHT, DETERIORATING NIGHT VISION, DIMINISHED VISUAL FIELD, BLIND AT AGE 21. |
| 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 |
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MOTHER'S COUSIN AND HALF-SISTER'S SON ARE AFFECTED. MOTHER AND HALF-SISTER ARE UNAFFECTED CARRIERS. |
| Remarks |
Clinically affected; onset of symptoms and diagnosis at 6 years of age; sensitivity to light, deterioration of night vision; diminished visual field (progressive); legally blind at age 21; pathogenic mutation in exon 13 of CHM gene: c.1609+2dupT; family h |