Demographic Data |
Relation to Proband |
proband |
Age at Sampling |
3 YR |
Sex |
Male |
Age of Onset(If not a control) |
6 MO |
Age at Diagnosis(If not a control) |
1 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 |
Gene, variant, consequence, and exon number: |
COMPLETE DELETION OF MAOA, MAOB AND PINCR GENES (XP11.3 DELETION)
|
Zygosity: |
Hemizygous |
Other variants: |
PATHOGENIC DELETION OF 17P12 REGION
|
Age of Symptom Onset and Age at Diagnosis |
Age of Symptom Onset: |
6 MONTHS |
Age at Diagnosis: |
1 YEAR |
In Utero History Information |
|
|
Additional Information: |
NO PREGNANCY COMPLICATIONS REPORTED
|
Birth History Information |
|
|
Dysmorphic Features |
|
Microcephaly
|
Neurological Symptoms |
|
Hypotonia Structural brain anomaly
|
Additional Information: |
LEFT TEMPORAL CORTICAL DYSPLASIA AND MILDLY HYPOPLASTIC BRAINSTEM
|
Optical and Audiological Symptoms |
|
|
Musculoskeletal Symptoms |
|
|
Developmental Milestones |
|
Delayed speech and language development Global developmental delay Delayed fine motor skills Delayed gross motor skills Abnormal weight for age
|
Gastrointestinal Symptoms |
|
Constipation
|
Additional Information: |
ABDOMINAL PAIN AND DISTENTION
|
Genitourinary Symptoms |
|
|
Respiratory and Cardiovascular Symptoms |
|
|
Cognitive and Behavioral Symptoms |
|
Autism spectrum disorder
|
Additional Information |
Testing Performed |
Neurological Testing: |
EEG-NORMAL; MRI-LEFT TEMPORAL CORTICAL DYSPLASIA
|
Uncategorized Testing: |
MOLECULAR GENETIC TESTING - CHROMOSOMAL MICRO ARRAY
|
Treatments and Assistive Devices |
|
Occupational therapy Physical therapy Speech therapy Orthotics
|
Medications |
|
CYPROHEPTADINE |
Family History |
Remarks |
See "Phenotypic Data" tab. 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 |