| Demographic Data |
| Relation to Proband |
brother |
| Age at Sampling |
19 YR |
| Sex |
Male |
| 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: |
Homozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
19 YEARS |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
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| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Additional Information: |
SPINA BIFIDA |
| Developmental Milestones |
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| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Additional Information: |
HYPOSPADIAS |
| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Intellectual Disability: |
Mild |
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
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| Medications |
| Family History |
| Remarks |
Clinically affected; spina bifida; hypospadias; mild intellectual disability; ventriculoperitoneal (VP) shunt; whole exome and Sanger sequencing confirmed homozygous c.464C>T (p.Ser155Phe) mutation in TAF11 gene; affected sisters with same mutation are GM27367 (fibro) and GM27370 (fibro); family 3432. |