| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
3 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
4 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
Black/African American |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
HETEROZYGOUS AUTOSOMAL DOMINANT MUTATION IN THE CHAMP1 GENE: C.2127T>G (P.TYR709TER) |
| Zygosity: |
Heterozygous
Notes: DE NOVO MUTATION (VARIANT NOT DETECTED IN EITHER PARENT) |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
4 MONTHS |
| Age at Diagnosis: |
DIAGNOSED BY GENETICIST AND PRIMARY CARE PHYSICIAN |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
Microcephaly
|
| Additional Information: |
DYSMORPHIC FACIAL FEATURES |
| Neurological Symptoms |
| |
|
| Additional Information: |
ABNORMAL SHAKING AND MOVEMENT |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Global developmental delay
|
| Additional Information: |
NON-VERBAL - LIMITED WORDS; DEVELOPMENT IS SIMILAR TO THAT OF AN 18 MONTH OLD; BALANCE ISSUES; FEEDING PROBLEMS - FOOD NEEDS TO BE DICED |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Neurological Testing: |
EEG, MRI |
| Respiratory and Cardiovascular Testing: |
EKG |
| Uncategorized Testing: |
BIOPSY |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Communication or learning devices
|
| Additional Testing: |
PECS BOOK |
| Medications |
| Family History |
| |
NONE; MUTATION NOT DETECTED IN EITHER PARENT (LYMPHS: GM27639, GM27640) |
| Remarks |
See Phenotypic Data tab. |