| Demographic Data |
| Relation to Proband |
mother |
| Age at Sampling |
35 YR |
| Sex |
Female |
| Racial Category |
Asiatic Indian |
| Country |
USA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
UNAFFECTED CARRIER MOTHER; VARIANT SEGREGATION ANALYSIS BY WES REVEALED THAT THIS MOTHER CARRIES THE C.796DUPA (P.T266NFSX26) VARIANT IN THE SURF1 GENE; ALSO CARRIES THE MITOCHONDRIAL DNA VARIANT M.8953A>G (P.ILE143VAL) |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| In Utero History Information |
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| Additional Information: |
HAD SINGLE 1ST TRIMESTER MISCARRIAGE |
| 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 |
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NO HISTORY OF CONSANGUINITY, PROBLEMS SIMILAR TO THAT OF PROBAND GM28013, OR MENTAL RETARDATION, SEIZURES, MUSCLE WEAKNESS, VISUAL LOSS, HEARING LOSS, UNEXPLAINED DEATHS, SHORT STATURE, POOR WEIGHT GAIN, KIDNEY PROBLEMS, LIVER PROBLEMS, CONSTIPATION, LIVER FAILURE, CARDIOMYOPATHY, EARLY ONSET, STROKES, OR DIABETES |
| Remarks |
See "Phenotypic Data" Tab |