| Demographic Data |
| Relation to Proband |
half-brother |
| Age at Sampling |
21 MO |
| Sex |
Male |
| Hispanic or Latino/Not Hispanic or Latino |
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 |
| In Utero History Information |
| |
|
| Additional Information: |
POOR PRENATAL CARE |
| Birth History Information |
| |
|
| Additional Information: |
UNDESCENDED TESTICLES (RESOLVED) |
| Dysmorphic Features |
| |
|
| Additional Information: |
FRENULUM ON THE UPPER LIP BETWEEN THE CENTRAL UPPER INCISORS
SMALL HEMANGIOMA (RESOLVING)
EXTRA NIPPLE
SOME MONGOLIAN SPOTS |
| Neurological Symptoms |
| |
|
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Abnormal weight for age
|
| Additional Information: |
WEIGHT AT 5TH PERCENTILE |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Autism spectrum disorder
|
| Additional Information: |
POOR EATER |
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
|
| Medications |
| |
GLUTEN, CASEIN-FREE DIET |
| Family History |
| |
SEGMENTAL DUPLICATION INHERITED FROM MOSAIC MOTHER.
TWO AFFECTED HALF-SIBLINGS.
MOTHER HAS SUBSTANCE ABUSE, ALCOHOL ABUSE AND BIPOLAR DISORDER. |
| Remarks |
Clinically affected; poor prenatal care; at birth had undescended testicles, has since resolved; frenulum on the upper lip between the central upper incisors; extra nipple; nose somewhat short; some mongolian spots on the back of buttocks and some on the back; one hypopigmented area on back of trunk on left thigh; poor eater; occasional night terrors; concern for ASD (moderate to severe; geneticist diagnosed 15q11.2q13.1 duplication through FISH; subject has 2 affected half siblings (GM26087 and GM26088) mother is bipolar and also suspected of being affected (not in repository); gluten and casein-free diet. |