| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
6 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
5 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: |
NEXT GENERATION SEQUENCING ANALYSIS OF GENOMIC DNA REVEALED A DE NOVO HETEROZYGOUS AUTOSOMAL DOMINANT PATHOGENIC VARIANT (C.1726C>T) IN EXON 18 IN THE TCF4 GENE (NM_001083962.1) RESULTING IN A NONSENSE MUTATION (P.ARG576TER); ALIGNED TO HUMAN GENOME BUILD GRCH37/UCSC HG19. |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Hypotonia
|
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
JOINT HYPERMOBILITY; BILATERAL FOOT PRONATION; BILATERAL PES PLANUS; RIGHT FOOT TURNING OUT |
| Developmental Milestones |
| |
Delayed speech and language development
|
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Learning disability
|
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Orthotics
|
| Surgeries |
BILATERAL ORTHOTICS |
| Medications |
| Family History |
| Remarks |
Clinically affected; see "Phenotypic Data" tab; fibro is GM28386; mother is GM28388 (fibro) and GM28389 (lymph); father is GM28390 (fibro) and GM28391 (lymph). |