| 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 GM27901 (Lymph). Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. |