| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
6 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
0 NB |
| 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: |
DELETION Q21.2Q21.33 IN TCF4 GENE
|
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
2.5 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
Wide mouth
Widely-spaced teeth
Tented cupid
|
| Additional Information: |
FULL CHEEKS |
| Neurological Symptoms |
| |
Corpus callosum abnormalities
|
| Additional Information: |
PARTIAL AGENESIS/HYPOPLASIA OF CORPUS CALLOSUM
|
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
SLENDER/SMALL HANDS, SLENDER/SMALL FEET, SIMIAN CREASE, FETAL PADS
|
| Developmental Milestones |
| |
Delayed speech and language development
Delayed gross motor skills
|
| Additional Information: |
LIMITED WALKING ABILITY, ABSENT OR SPARCE SPEECH, DELAYED MOTOR DEVELOPMENT
|
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Additional Information: |
SMALL PENIS
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Happy personality
Sensory processing disorder
Aggression
|
| Additional Information: |
INTELLECTUAL DISABILITY, STEREOTYPICAL MOVEMENTS
|
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Wheelchair or ambulation devices
Orthotics
Communication or learning devices
glasses
|
| Surgeries |
TETHERED CORD RELEASE
|
| Medications |
| Family History |
| Remarks |
Clinically affected. See "Phenotypic Data" Tab; 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 |