| 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
|
| Additional Information: |
NON VERBAL |
| 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. |