| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
14 MO |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
6 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
POLAND |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
MAP2K2, C.619G>A; P.GLU207LYS |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
6 MONTHS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Difficulty breathing
Caesarian section
|
| Additional Information: |
THICK MECONIUM- STAINED AMNIOTIC FLUID, NUCHAL CORD |
| Dysmorphic Features |
| |
|
| Additional Information: |
MACROGLOSSIA, SEGMENTAL HEMANGIOMAS (FOREHEAD, SCALP, THIGH AND LABIA), MACROSOMIA, ROUND FACE, DEPRESSED NASAL BRIDGE, BROAD NASAL TIP, EPICANTHAL FOLDS AND PROMINENT EARLOBES WITH POSTERIOR CREASES. |
| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
GRADE 1 INTRAVENTRICULAR HEMORRHAGE |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
|
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
Heart murmur
|
| Additional Information: |
PATENT FORAMEN OVALE WITH LEFT TO RIGHT SHUNTING, TWO SMALL ATRIAL SEPTAL DEFECTS NEAR THE SUPERIOR VENA CAVA |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Medications |
| Family History |
| Remarks |
See "Phenotypic Data" tab. |