| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
3 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
8 MO |
| Age at Diagnosis(If not a control) |
3 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 TRIO SEQUENCING REVEALED A DE NOVO MUTATION IN THE SYNGAP1 GENE (NM_006772.2): C.3718 C>T IN EXON 17 (P.R1240X); CHR6:33,414,461-33,459,293 44,833 BP; GRCH38/HG 38 |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
8 MONTHS |
| Age at Diagnosis: |
3 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
Strabismus
|
| Additional Information: |
STRABISMUS IN BOTH EYES CORRECTED THROUGH SURGERY |
| Neurological Symptoms |
| |
Seizures
|
| Additional Information: |
LOW MUSCLE TONE; SUBCLINICAL AND MYOCLONIC SEIZURES; STEREOTYPY |
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
EAR TUBES |
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
|
| Additional Information: |
APRAXIA; TROUBLE SPEAKING |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
INTELLECTUAL DISABILITY |
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Medications |
| |
KEPPRA |
| Family History |
| |
BOTH PARENTS (NOT IN REPOSITORY) ARE NEGATIVE FOR THE PATHOGENIC VARIANT IN SYNGAP1; THE POSSIBILITY OF GERMLINE MOSAICISM SHOULD BE CONSIDERED. |
| Remarks |
See Phenotypic Data tab. Same subject as GM27957 (iPSC). |