| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
29 YR |
| Sex |
Female |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
SEQUENCING REVEALED A HETEROZYGOUS MUTATION IN EXON 5 OF THE SLC2A1 GENE: C.628_629DELAG (P.ARG212LEUFS*24) |
| Zygosity: |
Heterozygous |
| Other variants: |
NO MITOCHONDRIAL VARIANTS OF NOTE WERE IDENTIFIED AND NO LARGE DELETIONS/DUPLICATIONS OF NOTE WERE IDENTIFIED IN THE MITOCHONDRIAL GENOME OR IN THE ASSESSED NUCLEAR GENES IN AN NGS ATAXIA PANEL |
| 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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Ataxia
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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: |
INTELLECTUAL DISABILITY, DYSARTHRIA |
| Additional Information |
| Testing Performed |
| Cognitive and Behavioral Testing: |
NORMAL BRAIN MRI |
| Uncategorized Testing: |
NORMAL CHROMOSOMAL MICROARRAY (CMA) |
| Treatments and Assistive Devices |
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| Medications |
| Family History |
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UNAFFECTED PARENTS: MOTHER (GM27665, LYMPH) AND FATHER (GM27666, LYMPH) |
| Remarks |
See Phenotypic Data tab; unaffected parents are GM27665 (mother, lymph) and GM27666 (father, lymph). |