| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
48 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
17 YR |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Age of Symptom Onset and Age at Diagnosis |
| Age at Diagnosis: |
17 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Additional Information: |
BIRTH WEIGHT OF 6 LBS, 14.5 OZ; POOR WIGHT GAIN AT THE NEWBORN STAGE |
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
|
| Optical and Audiological Symptoms |
| |
Defective hearing
|
| Additional Information: |
MODERATE HIGH FREQUENCY HEARING LOSS WITH 100% IN ONE EAR AND 96% IN THE OTHER EAR; ONSET OF HEARING LOSS AT 25 YEARS OF AGE |
| Musculoskeletal Symptoms |
| |
Scoliosis
|
| Additional Information: |
MINIMAL RIGHT SCOLIOSIS |
| Developmental Milestones |
| |
|
| Additional Information: |
SAT AT 9 MONTHS, WALKED AT 14 MONTHS, 2-3 WORD SENTENCES AT 2 YEARS |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Additional Information: |
NASCENT GONADOBLASTOMA |
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Respiratory and Cardiovascular Testing: |
ECHOCARDIOGRAM REVEALED MILD AORTIC VALVE REGURGITATION |
| Uncategorized Testing: |
CHROMOSOME STUDIES REVEALED MOSAIC TURNER SYNDROME; NORMAL RENAL ULTRASOUND |
| Treatments and Assistive Devices |
| |
|
| Additional Testing: |
GONADECTOMY TO TREAT GONADOBLASTOMA |
| Medications |
| |
NORVASC FOR HYPERTENSION; FEMHRT FEMALE HORMONE REPLACEMENT FOR OVARIAN DYSFUNCTION |
| Family History |
| Remarks |
Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. |