| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
19 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
2 YR |
| Age at Diagnosis(If not a control) |
19 YR |
| Racial Category |
Asian |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
HOMOZYGOUS MISSENSE C.910G>A (P.ASP304ASN) PATHOGENIC VARIANT IN THE ADSS1 GENE |
| Zygosity: |
Homozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
2 YEARS |
| Age at Diagnosis: |
19 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Unstable gait
|
| Additional Information: |
SLOW WALKING GAIT. |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
PERIPHERAL MUSCLE FATIQUE AND PROXIMAL MUSCLE WEAKNESS. DISTAL UPPER AND LOWER LIMB WEAKNESS. DIFFICULTY CLIMBING STAIRS. |
| Developmental Milestones |
| |
|
| Running: |
Not achieved and not maintained |
| Additional Information: |
UNABLE TO JUMP, STAND ON TOES OR HEELS. |
| Gastrointestinal Symptoms |
| |
Eating difficulties
|
| Additional Information: |
SLIGHT DIFFICULTY IN SWALLOWING FOOD |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Uncategorized Symptoms: |
FATIGUE AND TIREDNESS |
| Testing Performed |
| Uncategorized Testing: |
EXOME SEQUENCING; PREVIOUS CMA TESTING NORMAL |
| Treatments and Assistive Devices |
| |
|
| Medications |
| Family History |
| |
ONE AFFECTED BROTHER: SIMILAR SYMPTOMS INCLUDING DIFFICULTY IN STANDING UP FROM SITTING POSITION, FATIGUE AND TIREDNESS. |
| Remarks |
Clinically affected. Peripheral muscle fatigue; proximal muscle weakness. Parents are unaffected carriers, GM28581 and GM28582. One similarly affected brother. See "Phenotypic Data" tab. |