| Demographic Data |
| Relation to Proband |
father |
| Age at Sampling |
39 YR |
| 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: |
SANGER SEQUENCING REVEALED THIS INDIVIDUAL IS HETEROZYGOUS FOR THE C.655G>A (P.G219R) IN EXON 5 OF THE SLC13A5 GENE |
| Zygosity: |
Heterozygous
Notes: CLINICALLY UNAFFECTED FATHER OF 2 AFFECTED CHILDREN; BOTH CHILDREN (GM27288 & GM27289) ARE COMPOUND HETEROZYGOUS FOR TWO VARIANTS IN THE SLC13A5 GENE: SLC13A5 C.655G>A (P.G219R) EXON 5; SLC13A5 C.1475T>C (P.L492P) EXON 11 |
| Age of Symptom Onset and Age at Diagnosis |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
|
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
|
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
|
| Medications |
| Family History |
| Remarks |
Unaffected father of 2 affected children (GM27288 and GM27289) |