| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
11 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
7 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: |
BIRTH |
| Age at Diagnosis: |
7 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
Strabismus
Coarse facies
Wide mouth
Cupped ears
Thick fleshy lips
Widely-spaced teeth
Tented cupid
|
| Additional Information: |
SQUARE FOREHEAD; BEAKED NASAL BRIDGE; FULL CHEEKS; DEEP SET EYES; BROAD NASAL BRIDGE; DOWNTURNED/POINTED NASAL TIP; HIGH CHEEK BONES |
| Neurological Symptoms |
| |
Hypertonia
Hypotonia
Seizures
Unstable gait
|
| Additional Information: |
CLONUS; UNSTABLE ATAXIC GAIT; |
| Optical and Audiological Symptoms |
| |
Defective vision
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
LIMITED WALKING ABILITY; SLENDER/SMALL HANDS; SLENDER/SMALL FEET; FETAL PADS |
| Developmental Milestones |
| |
|
| Additional Information: |
ABSENT OR SPARSE SPEECH;DELAYED MOTOR DEVELOPMENT; INCOORDINATION |
| Gastrointestinal Symptoms |
| |
Constipation
|
| Additional Information: |
BOWEL EXPLOSIONS; GASTROESOPHAGEAL REFLUX |
| Genitourinary Symptoms |
| |
|
| Additional Information: |
SMALL PENIS |
| Respiratory and Cardiovascular Symptoms |
| |
Breathing irregularities
|
| Additional Information: |
ABNORMAL BREATHING PATTERNS; INTERMITTENT BREATHING; HYPERVENTILATION |
| Cognitive and Behavioral Symptoms |
| |
Happy personality
Anxiety
Autism spectrum disorder
Sensory processing disorder
Sleep disturbances
|
| Additional Information: |
INTELLECTUAL DISABILITY |
| Additional Information |
| Uncategorized Symptoms: |
DRY SKIN |
| Testing Performed |
| Neurological Testing: |
EEG TEST WAS NORMAL |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Orthotics
Communication or learning devices
|
| Additional Testing: |
WALKER; SURGERY: BILATERAL CACANEAL LENGTHENING WITH AN ILIAC CREST GRAFT |
| Medications |
| Family History |
| |
AN AFFECTED SISTER (GM27239) 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. |