| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
5 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
3 DA |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
OGT, C.3040A>G (P.M1014V), MISSENSE |
| Zygosity: |
Hemizygous |
| Other variants: |
LMNA, C.1634G>A (P.R545H), MISSENSE |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
3 DAYS |
| In Utero History Information |
| |
|
| Additional Information: |
ABNORMAL FETAL HEART ULTRASOUND SCAN
MATERNAL DIABETES
THROMBOCYTOPENIA DURING PREGNANCY |
| Birth History Information |
| |
Failure to thrive
|
| Additional Information: |
THROMBOCYTOPENIA AFTER BIRTH |
| Dysmorphic Features |
| |
|
| Additional Information: |
PROMINENT FOREHEAD
MINIMAL ELFIN FACE
MICROGNATHIA |
| Neurological Symptoms |
| |
Seizures
White matter issues
|
| Additional Information: |
PERIVENTRICULAR WHITE MATTER HYPERINTENSITY
A LITTLE IRREGULAR WALK |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
JOINT LAXITY
DECREASED MUSCLE MASS
POOR-FAIR STRENGTH |
| Developmental Milestones |
| |
|
| Additional Information: |
DEVELOPMENTAL FEEDING DISORDER |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
Atrial septal defect
Heart murmur
|
| Additional Information: |
APNEA
PALPITATIONS
VALVULAR PROBLEMS
MILDLY DILATED LEFT AND RIGHT ATRIA
LEFT VENTRICULAR NONCOMPACTION |
| Cognitive and Behavioral Symptoms |
| |
Autism spectrum disorder
|
| Additional Information |
| Uncategorized Symptoms: |
ALLERGIC TO DAIRY, NUTS, AND SESAME |
| Testing Performed |
| Neurological Testing: |
BRAIN MRI: PERIVENTRICULAR WHITE MATTER HYPERINTENSITY
A LITTLE IRREGULAR WALK |
| Respiratory and Cardiovascular Testing: |
PRENATAL ULTRASOUND: LEFT VENTRICULAR THICKENING.
WHITE CELL COUNTS LOW
LOW PLATELES |
| Metabolic, Hematologic, and Endocrinologic Testing: |
PRO-BRAIN NATURETIC PEPTIDE 15-TIMES ELEVATED |
| Treatments and Assistive Devices |
| |
|
| Medications |
| |
CARDIAC MEDICATIONS |
| Family History |
| Remarks |
Clinically affected. White matter disorder. Autism. Congenital heart problem (noncompaction cardiomyopathy). Dysmorphic craniofacial features. Developmental feeding disorder. Acute respiratory distress/arrest on day 3. Seizure on day 3 but none since. |