| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
3 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
2 YR |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE EXOME SEQUENCING REVEALED A DE NOVO VARIANT IN THE SMARCA2 GENE, C.1597 A>T, P.THR533SER. |
| Zygosity: |
Heterozygous |
| Other variants: |
WHOLE EXOME SEQUENCING REVEALED A DE NOVO VARIANT OF UNCERTAIN SIGNIFICANCE IN THE RHOBTB2 GENE, C.393 T>A, (P.=). |
| Age of Symptom Onset and Age at Diagnosis |
| Age at Diagnosis: |
2 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Low birth weight
|
| Additional Information: |
SMALL FOR GESTATIONAL AGE, PRETERM BIRTH. |
| Dysmorphic Features |
| |
|
| Additional Information: |
WIDER SPACE BETWEEN EYES, LONG PHILTRUM, PLAGIOCEPHALY (MILD DEFORMATIONAL), THIN VERMILLION BORDER, BRACHYCEPHALY (MODERATE POSITIONAL). |
| Neurological Symptoms |
| |
Hypotonia
|
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
|
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
COGNITIVE DELAY, DELAY WALKING |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
NORMAL MRI OF THE BRAIN. |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Orthotics
Communication or learning devices
|
| Medications |
| Family History |
| Remarks |
See "Phenotypic Data tab. Unaffected mother is GM30014, Unaffected father is GM30015 and unaffected sibling is GM30016. |