| Demographic Data |
| Relation to Proband |
sister |
| Age at Sampling |
21 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
21 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: |
C.464C>T (P.SER155PHE) IN THE TAF11 GENE |
| Zygosity: |
Heterozygous
Notes: METHOD: WHOLE EXOME SEQUENCING AND SANGER SEQUENCING |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
21 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
Microcephaly
|
| Neurological Symptoms |
| |
|
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
UNILATERAL MICROPHALMIA |
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Abnormal height for age
Abnormal weight for age
|
| Additional Information: |
CONSTITUTIONAL SMALL SIZE |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Intellectual Disability: |
Mild |
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
|
| Medications |
| Family History |
| Remarks |
Clinically affected; age of onset at birth; mild intellectual disability; constitutional small size; unilateral microphalmia; microcephaly; preauricular pit; whole exome and Sanger sequencing confirmed homozygous c.464C>T (p.Ser155Phe) mutation in TAF11 gene; affected sister and brother with same mutation are GM27367 (fibro) and GM27371 (fibro), respectively; family 3432. |