| Demographic Data |
| Relation to Proband |
sister |
| Age at Sampling |
9 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
5 MO |
| Age at Diagnosis(If not a control) |
5 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
More than one race |
| Country |
NEW ZEALAND |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
A CLINICAL EXOME SEQUENCING STUDY REVEALED A PATHOGENIC MUTATION IN THE TCF4 GENE: C.922+1G>A |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
5 MONTHS |
| Age at Diagnosis: |
5 YEARS |
| In Utero History Information |
| |
|
| Additional Information: |
PRIOR AFFECTED PREGNANCY |
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
Coarse facies
Cupped ears
Thick fleshy lips
Widely-spaced teeth
Tented cupid
Abnormal hands or feet
|
| Additional Information: |
BEAKED NASAL BRIDGE; WIDE OPEN MOUTH; FULL CHEEKS; DEEP SET EYES; DOWNTURNED/POINTED NASAL TIP; HIGH CHEEK BONES |
| Neurological Symptoms |
| |
|
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
SLENDER SMALL HANDS AND FEET; FETAL PADS |
| Developmental Milestones |
| |
Delayed speech and language development
|
| Additional Information: |
ABSENT OR SPARSE SPEECH; LIMITED WALKING ABILITY; UNSTABLE, ATAXIC GAIT; DELAYED MOTOR DEVELOPMENT; INCOORDINATION; DELAYED MOTOR DEVELOPMENT |
| Gastrointestinal Symptoms |
| |
Constipation
|
| Additional Information: |
RESOLVED CONSTIPATION |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
Breathing irregularities
|
| Additional Information: |
INTERMITTENT BREATHING |
| Cognitive and Behavioral Symptoms |
| |
Happy personality
|
| Additional Information: |
EPISODES OF LACK OF RESPONSIVENESS; INTELLECTUAL DISABILITY |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
NORMAL EEGS |
| Optical and Audiological Testing: |
GOOD VISION |
| Treatments and Assistive Devices |
| |
Wheelchair or ambulation devices
|
| Additional Testing: |
WALKER; GLASSES |
| Medications |
| |
SURGERY: LATERAL COLUMN LENGTHENING- BILATERAL PLANOVALGUS FEET |
| Family History |
| |
AN AFFECTED BROTHER (GM27573) ALSO CARRIES THE SAME MUTATION; UNAFFECTED FATHER (GM27574) IS MOSAIC FOR THE TCF4 MUTATION, C.922+1G>A, FOUND IN ~3% OF HIS CELLS; MOTHER (GM27576) DOES NOT CARRY THE TCF4 MUTATION. OTHER UNAFFECTED FAMILY MEMBERS ARE BROTHERS GM27572 AND GM27575. |
| Remarks |
See Phenotypic Data tab. |