| Demographic Data |
| Relation to Proband |
proband |
| Sex |
Male |
| Age of Onset(If not a control) |
0 NB |
| Age at Diagnosis(If not a control) |
15 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| 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 C.3313 C>G (EXON 24), P.ARG1105GLY IN THE SMARCA2 GENE. |
| Zygosity: |
Heterozygous |
| Other variants: |
A VARIANT OF UNCERTAIN SIGNIFICANCE WAS IDENTIFIED IN THE MT-RNR1 GENE, M.1027 A>G; HOMOPLASTIC; PRESENT IN MOTHER. |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
AT BIRTH |
| Age at Diagnosis: |
15 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Caesarian section
Premature delivery
|
| Additional Information: |
EARLY FEEDING DISORDERS |
| Dysmorphic Features |
| |
Thick fleshy lips
|
| Additional Information: |
TRIANGULAR FACE, LONG EYELASHES, SPARSE HAIR, SHORT STATURE |
| Neurological Symptoms |
| |
Hypotonia
Seizures
|
| Additional Information: |
WEARS HELMET AND SAFETY VEST FOR SEIZURES. |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
PROMINENT JOINTS |
| Developmental Milestones |
| |
Global developmental delay
|
| Additional Information: |
DELAYED TOOTH ERUPTION |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Additional Information: |
TWO GROIN HERNIAS |
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Autism spectrum disorder
|
| Additional Information |
| Uncategorized Symptoms: |
PREMATURE ADRENARCHE, CORRECTED PERIRECTAL FISTULA. |
| Testing Performed |
| Neurological Testing: |
NORMAL MRI SCAN OF BRAIN FOR AGE. INTERCRANIAL EEG SHOWED FREQUENT BURSTS OF BILATERAL SPIKE ACTIVITY MORE PRONOUNCED ANTERIORLY AND DURING SLEEP. |
| Treatments and Assistive Devices |
| |
|
| Surgeries |
2X VAGAL NERVE STIMULATOR, PENILE CYST REMOVED |
| Additional Testing: |
HELMET AND SAFETY VEST FOR SEIZURES |
| Medications |
| |
LAMOTRIGINE, CLONAZEPAM, DEPAKOTE, TRAZODONE, NAYZILAM |
| Family History |
| Remarks |
See "Phenotypic Data" tab. |