| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
2 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
0 DA |
| Age at Diagnosis(If not a control) |
1 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
Caucasian |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
N/A - CMA RESULTS DID NOT SHOW ABNORMAL CHROMOSOME ANALYSIS |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
1 YEAR |
| In Utero History Information |
| |
Fetal growth issues
|
| Additional Information: |
ABNORMAL ULTRASOUND SHOWED SEVERE IUGR 2VC CAT II TRACING |
| Birth History Information |
| |
Low birth weight
Difficulty breathing
Caesarian section
Premature delivery
|
| Additional Information: |
SMALL GESTATIONAL AGE AT BIRTH, UNDERWEIGHT, POOR GROWTH, POOR RESPIRATORY EFFORT ASSISTED WITH CPAP DEVICE, LIMP, PALE, AND VARIABLE HEART RATE; POOR WEIGHT GAIN THAT INCREASED WITH CHANGE IN DIET WITH CONSISTENT NASAL REGURGITATION. |
| Dysmorphic Features |
| |
Wide mouth
|
| Additional Information: |
ASYMMETRIC GLUTEAL FOLD UVULA WIDE WITH MEDIAN RAPHE; PALATE MALFORMATION; PARASACRAL DIMPLE |
| Neurological Symptoms |
| |
|
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
|
| Gastrointestinal Symptoms |
| |
Constipation
Eating difficulties
|
| Additional Information: |
VOMITING MUCUS; ABDOMINAL PAIN, UMBILICAL HERNIA |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Sleep disturbances
|
| Additional Information |
| Testing Performed |
| Uncategorized Testing: |
ABNORMAL CHROMOSOMAL MICROARRAY ANALYSIS WITH MULTIPLE LARGE REGIONS OF HOMOZYGOSITY AND CONCERN FOR CONSANGUINITY; ABSENCE OF HETEROZYGOSITY WITH NORMAL COPY-NUMBER VARIATION (26.6%); NORMAL ENCEPHALOGRAM |
| Treatments and Assistive Devices |
| |
|
| Medications |
| Family History |
| Remarks |
See "Phenotypic Data" Tab |