| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
65 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
47 YR |
| 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 |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
AT BIRTH |
| Age at Diagnosis: |
47 |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Additional Information: |
THIN UPPER LIP
LARGE SKULL
EXCESS SKIN UNDER EYES |
| Neurological Symptoms |
| |
|
| Optical and Audiological Symptoms |
| |
Defective vision
|
| Additional Information: |
STRABISMIC AMBLYOPIA |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
CUBITUS VALGUS
HYPERMOBILE JOINTS
FUSED CERVICAL VERTEBRAE |
| Developmental Milestones |
| |
|
| Additional Information: |
GROWTH DELAY |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
Kidney abnormalities
|
| Additional Information: |
GONADAL DYSGENESIS
PERSISTENT FETAL LOBULATION |
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
SPATIAL DEFICITS
IQ 161 |
| Additional Information |
| Uncategorized Symptoms: |
HYPOTHYROIDISM
MILD ADRENAL INSUFFICIENCY |
| Testing Performed |
| Treatments and Assistive Devices |
| |
|
| Medications |
| Family History |
| Remarks |
Clinically affected with mixed Gonadal Dysgenesis; diagnosed at 47 years old by an endocrinologist; symptom onset at birth; craniofacial abnormalities: micrognathia, thin upper lip, large skull; musculoskeletal abnormalities: cubitus valgus; genitourinary |