| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
6 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
2 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: |
GENETIC TESTING REVEALED A DE NOVO LIKELY PATHOGENIC VARIANT IN THE SMARCA2 GENE, C.4024 C>T P.(R1342W). |
| Zygosity: |
Heterozygous |
| Other variants: |
GENETIC TESTING ALSO REVEALED A DE NOVO PATHOGENIC VARIANT IN THE ANKRD11 GENE, C.3804_3805INS(14) P.(K1269WFS*54). |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
2 YEARS OLD |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
Wide mouth
Thick fleshy lips
|
| Additional Information: |
LONG FULL EYELASHES |
| Neurological Symptoms |
| |
|
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
SEVERE ASTIGMATISM, BOTH EYES |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
GENU VARUM, BOTH LEGS |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
|
| Gastrointestinal Symptoms |
| |
Constipation
Gastrointestinal reflux
Eating difficulties
|
| Additional Information: |
HIATAL HERNIA |
| Genitourinary Symptoms |
| |
Cryptorchidism
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
CHRONIC SINUS INFECTIONS |
| Cognitive and Behavioral Symptoms |
| |
Autism spectrum disorder
Learning disability
Attention deficit hyperactivity disorder
|
| Additional Information |
| Uncategorized Symptoms: |
MICROCYTIC ANEMIA |
| Testing Performed |
| Neurological Testing: |
EEG NORMAL |
| Respiratory and Cardiovascular Testing: |
EKG NORMAL, ECHOCARDIOGRAM NORMAL |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Surgeries |
ADENOIDECTOMY, TYMPANOSTOMY TUBE PLACEMENT |
| Medications |
| |
ABILIFY, CLONIDINE, FAMOTIDINE, CLARITIN |
| Family History |
| Remarks |
See "Phenotypic Data" tab. |