| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
46 MO |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
3 MO |
| 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 |
| Other variants: |
EPILEPSY PANEL REVEALED A HETEROZYGOUS VARIANT OF UNCERTAIN SIGNIFICANCE IN THE CLN5 GENE |
| Age of Symptom Onset and Age at Diagnosis |
| Age at Diagnosis: |
3 MONTHS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Additional Information: |
NEWBORN FEEDING PROBLEMS |
| Dysmorphic Features |
| |
|
| Additional Information: |
SMALL FOR AGE |
| Neurological Symptoms |
| |
Hypertonia
Hypotonia
Seizures
|
| Additional Information: |
EPILEPTIC ENCEPHALOPATHY; SEVERE HYPOTONIA; RECURRENT INFANTILE SPASMS WITH INTRACTABLE EPILEPSY; MULTIFOCAL TONIC SEIZURES; PARTIAL IDIOPATHIC EPILEPSY WITH SEIZURES OF LOCALIZED ONSET, INTRACTABLE, WITH STATUS EPILEPTICUS; EPILEPTIC ENCEPHALOPATHY; HYPSARRHYTHMIA EVOLVING TO A SLOW SPIKE WAVE PATTERN; CENTRAL HYPOTONIA WITH AXIAL HYPERTONIA; CLONUS; FOCAL EPILEPSY; CONVULSIONS; SIALORRHEA |
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
CORTICAL VISUAL IMPAIRMENT; HYPERMETROPIA OF BOTH EYES; ASTIGMATISM OF BOTH EYES |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
OSTEOPENIA |
| Developmental Milestones |
| |
Global developmental delay
|
| Additional Information: |
GLOBAL DEVELOPMENTAL DELAYS WITH REGRESSION |
| Gastrointestinal Symptoms |
| |
Eating difficulties
|
| Additional Information: |
FEEDING DIFFICULTIES; OCCULT BLOOD IN STOOLS; G-TUBE DEPENDENCY; ORAL PHASE DYSPHAGIA; DIARRHEA |
| Genitourinary Symptoms |
| |
Urinary tract infection
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Additional Information: |
RESTRICTIVE LUNG DISEASE; AIRWAY CLEARANCE IMPAIRMENT; ASPIRATION INTO RESPIRATORY TRACT |
| Cognitive and Behavioral Symptoms |
| |
Sleep disturbances
|
| Additional Information: |
ABNORMAL SLEEP PATTERN; OBSTRUCTIVE SLEEP APNEA |
| Additional Information |
| Uncategorized Symptoms: |
ANEMIA; ADRENAL INSUFFICIENCY; CORTISOL DEFICIENCY; HYPONATREMIA |
| Testing Performed |
| Neurological Testing: |
BRAIN MRI REPORTEDLY NONDIAGNOSTIC |
| Metabolic, Hematologic, and Endocrinologic Testing: |
BIOCHEMICAL TESTING REPORTEDLY NONDIAGNOSTIC; HISTORY OF ELEVATED LIVER FUNCTION TESTS |
| Uncategorized Testing: |
CHROMOSOMAL MICROARRAY REPORTEDLY NONDIAGNOSTIC |
| Treatments and Assistive Devices |
| |
|
| Additional Testing: |
G-TUBE DEPENDENCE; BIPAP DEPENDENCE |
| Medications |
| |
HIGH DOSE STEROID (ACTH) CLEARED INFANTILE SPASMS AND HYPSARRHYTHMIA |
| Family History |
| |
SISTER (GM27988, GM27990) HAS SAME CONDITION; MUTATIONS INHERITED FROM THE PARENTS (GM27994, GM27995, GM27996, GM27997). NO OTHER FAMILY HISTORY IN PAST GENERATIONS. |