| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
7 MO |
| Sex |
Female |
| Age of Onset(If not a control) |
14 WK |
| Age at Diagnosis(If not a control) |
20 WK |
| 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: |
WHOLE EXOME SEQUENCE ANALYSIS OF GENOMIC DNA REVEALED A DE NOVO HETEROZYGOUS PATHOGENIC MUTATION (C.625G>A) IN THE PACS2 GENE (NM_001100913.3) RESULTING IN AN AMINO ACID SUBSTITUTION (P.GLU209LYS; RS1555408401) |
| Zygosity: |
Heterozygous |
| Other variants: |
WHOLE EXOME SEQUENCING REVEALED A VARIANT OF UNKNOWN SIGNIFICANCE IN THE PIGV GENE (C.1467C>G; P.PHE489LEU) |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
14 WEEKS |
| Age at Diagnosis: |
20 WEEKS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
GRAND MAL EPILEPSY; CEREBELLAR DYSGENESIS |
| Optical and Audiological Symptoms |
| |
Nystagmus
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
MUSCULAR HYPOTONIA |
| Developmental Milestones |
| |
|
| Additional Information: |
PSYCHOMOTOR DEVELOPMENT DELAY |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
VENTRICULAR SEPTAL DEFECT |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
TREMOR |
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
|
| Additional Testing: |
PSYCHOLOGICAL THERAPY |
| Medications |
| |
LEVETIRACETAM; OXCARBAZEPINE |
| Family History |
| Remarks |
See "Phenotypic Data" tab. GM28610 (Fibro). |