| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
11 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
6 MO |
| Age at Diagnosis(If not a control) |
2 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
ISRAEL |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
DNA SEQUENCING OF THE PERIPHERAL BLOOD REVEALED A HETEROZYGOUS MUTATION IN THE MECP2 GENE: C.710DELG |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
6 MONTHS |
| Age at Diagnosis: |
2 YEARS; DIAGNOSED BY THE PEDIATRICIAN |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Additional Information: |
HEAD CIRCUMFERENCE HAS NOT DECELERATED |
| Neurological Symptoms |
| |
|
| Additional Information: |
NO USE OF HANDS; CONSTANT REPETITIVE HAND MOTIONS; ALTHOUGH CONTROLLED WITH MEDICATION, HAS OCCASIONAL SEIZURES; OCCASIONAL TREMORS; TYPICAL SLEEPING PATTERN FOR AGE GROUP |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
SOME DEGREE OF RIGIDITY/SPASTICITY; NO SCOLIOSIS OR KYPHOSIS; FEET SIZE IS PROPORTIONATE WITH BODY SIZE |
| Developmental Milestones |
| |
|
| Additional Information: |
NON-VERBAL; WALKS WITH ASSISTANCE; NORMAL HEIGHT (127CM) AND WEIGHT (22KG) FOR AGE |
| Gastrointestinal Symptoms |
| |
Constipation
Eating difficulties
|
| Additional Information: |
EATS SLOWLY; DOES NOT HAVE A FEEDING TUBE; NO REFLUX ISSUES; NO ISSUES WITH BLOATING |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
Breathing irregularities
|
| Additional Information: |
OCCASIONAL BREATHING PROBLEMS; NO ISSUES WITH CIRCULATION |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
TEETH GRINDING OFTEN/CONSTANT; DOES NOT EXHIBIT SELF-INJURIOUS BEHAVIOR; IRRITABILITY/AGITATION IS SAME AS EXPECTED IN PEERS |
| Additional Information |
| Uncategorized Symptoms: |
NEVER OR RARELY SICK |
| Testing Performed |
| Respiratory and Cardiovascular Testing: |
ABNORMAL EEG: MINOR ABNORMALITIES - SLOW WAVES - CENTRO TEMPORAL |
| Treatments and Assistive Devices |
| |
Physical therapy
Speech therapy
Communication or learning devices
|
| Additional Testing: |
ADDITIONAL THERAPY: HYDROTHERAPY |
| Medications |
| |
DEPELEPT, TOPAMAX, TRILEPTIN |
| Family History |
| |
NO FAMILY HISTORY OF DISEASE; UNAFFECTED MOTHER IS GM28301 (LYMPH); UNAFFECTED SISTER IS GM28302 (LYMPH) |
| Remarks |
See "Phenotypic Data" tab; fibro is GM28299; unaffected mother is GM28301 (lymph); unaffected sister is GM28302 (lymph). |