| Demographic Data |
| Relation to Proband |
sister |
| Age at Sampling |
22 MO |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
6 WK |
| 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: |
WHOLE GENOME SEQUENCING REVEALED COMPOUND HETEROZYGOUS AUTOSOMAL RECESSIVE MUTATIONS IN THAP12 INHERITED IN TRANS: PATERNALLY INHERITED MISSENSE VARIANT C.829C>A (P.PRO277THR), 11:76352321; MATERNALLY INHERITED FRAMESHIFT VARIANT IN EXON 3 C.312DELA (P.GLU105ASNFSTER2), 11:76360961 (NM_004705). READS WERE ALIGNED TO HUMAN GENOME BUILD 38 (HG38). |
| Zygosity: |
Compound Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age at Diagnosis: |
6 WEEKS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
SEVERE HYPOTONIA; INFANTILE SPASMS BEFORE 3 MONTHS OF AGE; HYPSARRHYTHMIA; FOCAL EPILEPSY PRESENTING AS APNEIC EPISODES; INVOLUNTARY FACIAL MOVEMENTS; LACK OF MOTOR PLANNING |
| Optical and Audiological Symptoms |
| |
Defective vision
|
| Additional Information: |
CORTICAL VISUAL IMPAIRMENT |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
UNABLE TO GAIN HEAD CONTROL, CORE CONTROL, OR WEIGHT BEARING THROUGH LIMBS |
| Developmental Milestones |
| |
Global developmental delay
|
| Gastrointestinal Symptoms |
| |
Eating difficulties
|
| Additional Information: |
FEEDING DIFFICULTIES WITH DYSPHAGIA; G-TUBE DEPENDENCE |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
|
| Additional Testing: |
G-TUBE |
| Medications |
| |
HIGH DOSE STEROID (ACTH) CLEARED INFANTILE SPASMS AND HYPSARRHYTHMIA, WHICH RELAPSED AFTER COMPLETION OF TREATMENT |
| Family History |
| |
SISTER (GM27991, GM27993) HAS SAME CONDITION; MUTATIONS INHERITED FROM THE PARENTS (GM27994, GM27995, GM27996, GM27997). NO OTHER FAMILY HISTORY IN PAST GENERATIONS. |