| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
3 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
1 YR |
| Age at Diagnosis(If not a control) |
2 YR |
| Hispanic or Latino/Not Hispanic or Latino |
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: |
WHOLE EXOME SEQUENCING (WES) REVEALED TWO PATHOLOGIC DE NOVO COMPOUND HETEROZYGOUS MUTATIONS (1 COPY EACH) IN THE TAF8 GENE: P.ASN26THRFS*29 (AACAC>A, CHR6:42.077.124 - 42.077.128) AND P.THR240ARGFS*7 (GAC>G, CHR6: 42.068.544 - 42,068.546) |
| Zygosity: |
Compound Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
1 YEAR |
| Age at Diagnosis: |
2 YEARS; DIAGNOSED BY A GENETICIST |
| In Utero History Information |
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| Birth History Information |
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| Additional Information: |
BORN AT 34 WEEKS; NORMAL NIPT; DELIVERY: URGENT CS DELIVERY; APGARS 9/9; COMPLICATION: INTRAUTERINE GROWTH RESTRICTED (IUGR) WITH NO END DIASTOLIC FLOW; SMALL FOR GESTATIONAL AGE; HEAD CIRCUMFERENCE 12%ILE; HEIGHT: 11%ILE; BMI: 15.6 |
| Dysmorphic Features |
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| Additional Information: |
MINOR ANOMALIES; PATENT FORAMEN OVALE |
| Neurological Symptoms |
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| Additional Information: |
HALTING WALK |
| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Additional Information: |
TIGHT ACHILLES TENDONS |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Abnormal height for age
|
| Additional Information: |
SHORT STATURE; ABNORMAL SPEECH; SPEAKS MORE THAN 50 WORDS AND UNDERSTANDS TWO LANGUAGES; BALANCE HAS IMPROVED; WALKS UP STAIRS WITHOUT USING HANDS; IS STARTING TO JUMP; SIGNIFICANTLY DELAYED COMPARED TO HIS FRATERNAL TWIN BROTHER; DEVELOPMENT: CRAWL 1 YEAR, WALK: 1 YEAR 7 MONTHS; SAYS A FEW WORDS AND PHRASES WITH TOTAL OF 50 WORDS; IS EASILY FRUSTRATED |
| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information: |
MOMENTS OF FRUSTRATION - WILL BITE HIMSELF OR SIBLING |
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Additional Testing: |
IS ALLERGIC TO AMOXICILLIN AND PEANUTS |
| Medications |
| |
NO MEDICATIONS |
| Family History |
| |
HAS UNAFFECTED FRATERNAL TWIN BROTHER; MATERNAL COUSIN WITH CEREBRAL PALSY; NO CONSANGUINITY; FAMILY HISTORY IS NEGATIVE FOR KNOWN GENETIC CONDITIONS, HISTORY OF CANCER, MULTIPLE SPONTANEOUS ABORTIONS, BIRTH DEFECTS, SEIZURES, LEARNING CONCERNS/INTELLECTUAL DISABILITY, AND OTHER DEVELOPMENTAL DELAYS |
| Remarks |
Clinically affected; see "Phenotypic Data" tab. |