| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
27 MO |
| Sex |
Female |
| Age of Onset(If not a control) |
2 MO |
| Age at Diagnosis(If not a control) |
17 MO |
| 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: |
TCF4, C.1426C>T (P.Q476X), NONSENSE |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
2 MONTHS |
| Age at Diagnosis: |
17 MONTHS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Additional Information: |
EARLY ISSUES WITH LATCH |
| Dysmorphic Features |
| |
Strabismus
Widely-spaced teeth
Tented cupid
Fetal pads
Microcephaly
|
| Additional Information: |
BROAD NASAL BRIDGE, DOWNTURNED/POINTED NASAL TIP, MILD MICROCEPHALY, VERY SUBTLE LEFT ESOPHORIA |
| Neurological Symptoms |
| |
Hypotonia
Unstable gait
|
| Additional Information: |
INCOORDINATION |
| Optical and Audiological Symptoms |
| |
Defective vision
|
| Additional Information: |
ASTIGMATISM, MYOPIA, ANISOMETROPIA |
| Musculoskeletal Symptoms |
| |
Club foot
|
| Additional Information: |
SLENDER/SMALL HANDS AND FEET, FLAT FEET |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
|
| Additional Information: |
LIMITED WALKING ABILITY, DELAYED DENTAL ERUPTION |
| Gastrointestinal Symptoms |
| |
Constipation
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Happy personality
Learning disability
|
| Additional Information |
| Testing Performed |
| Neurological Testing: |
MRI: NO BRAIN MALFORMATIONS, EEG: NORMAL |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Orthotics
music therapy
glasses
|
| Surgeries |
TEAR DUCT OPEN |
| Medications |
| Family History |
| Remarks |
Clinically affected; symptom onset at 2 months of age; diagnosed at 17 months of age; early issues with latch; no signs of aspiration; fed well from the bottle from birth, ; broad nasal bridge; downturned/pointed nasal tip; tented/cupid bowed upper lip; |