| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
18 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
1 MO |
| Age at Diagnosis(If not a control) |
12 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 GENOME SEQUENCING AND TARGETED ARRAY CCGH ANALYSIS REVEALED A 9P24 MICRODELETION (INTERSTITIAL HETEROZYGOUS LOSS OF APPROXIMATELY 47KB IN THE SHORT ARM OF CHROMOSOME 9 AT BAND 9P24.3 BETWEEN 2094861 AND 2141771) IN THE SMARCA2 GENE. THIS LOSS INCLUDES AT LEAST EXONS 20-27, HOWEVER DUE TO METHODOLOGY LIMITATIONS IT COULD BE LARGER AND MAY INCLUDE ADDITIONAL EXONS. |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
0-1 MONTH |
| Age at Diagnosis: |
12 YEARS |
| In Utero History Information |
| |
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| Birth History Information |
| |
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| Dysmorphic Features |
| |
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| Neurological Symptoms |
| |
Seizures
|
| Additional Information: |
FOCAL EPILEPSY, BISYNCHRONOUS, MIXTURE OF SEIZURE TYPES INCLUDING TONIC CLONIC, CLONIC AND ABSENCE. |
| Optical and Audiological Symptoms |
| |
Defective vision
|
| Additional Information: |
SHORT SIGHTED; -5.0 PRESCRIPTION. PRONE TO INCREASED EARWAX WHICH DECREASES ABILITY TO HEAR. FREQUENT EYE INFECTIONS. |
| Musculoskeletal Symptoms |
| |
Scoliosis
|
| Additional Information: |
MILD SCOLIOSIS |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
|
| Additional Information: |
SLOW PROCESSING, SLOW TO OBEY COMMANDS, NOCTURNAL ENURESIS. |
| Gastrointestinal Symptoms |
| |
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| Genitourinary Symptoms |
| |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
| |
Autism spectrum disorder
Aggression
Learning disability
|
| Intellectual Disability: |
Moderate |
| Additional Information: |
MODERATE TO SEVERE LEARNING DISABILITY. |
| Additional Information |
| Uncategorized Symptoms: |
ECZEMA, PSORIASIS, DELAYED DENTITION, HYPODONTIA |
| Testing Performed |
| Treatments and Assistive Devices |
| |
|
| Surgeries |
DENTAL, TESTICULAR (LEFT ORCHIDOPEXY) |
| Medications |
| |
VALPROATE (EPILIM CHORONSPHERES) (1750 MG DAILY), LAMICTAL(100 MG DAILY), BUCCAL MIDAZOLAM (10MG FOR EMERGENCIES ONLY, IF SEIZURE LASTS LONGER THAN 5 MINUTES). FUCIBET OINTMENT, DIPROSALIC LOTION, LAMOTRIGINE. |
| Family History |
| |
EXTENSIVE FAMILY HISTORY OF PSORIASIS |
| Remarks |
See "Phenotypic Data" tab. |