| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
6 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
18 MO |
| Age at Diagnosis(If not a control) |
4 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: |
EXOME SEQUENCING OF GENOMIC DNA TARGETING GENES IN A COMPREHENSIVE EPILEPSY PANEL REVEALED A LIKELY PATHOGENIC HETEROZYGOUS DE NOVO VARIANT (C.235 G>A) IN EXON 5 OF THE WDR45 GENE (NM_007075.3) RESULTING IN A NON-CONSERVATIVE SUBSTITUTION (P.ALA79THR). ALIGNED TO HUMAN GENOME BUILD GRCH37/HG19. WHOLE EXOME SEQUENCING DID NOT IDENTIFY ADDITIONAL VARIANTS INTERPRETED TO BE RELATED TO THE PHENOTYPE. |
| Zygosity: |
Heterozygous
Notes: DE NOVO MUTATION |
| Other variants: |
HETEROZYGOUS VARIANT (C.3708 G>T) IN THE POLG GENE (P.GLN1236HIS) INHERITED FROM THE MOTHER |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
18 MONTHS |
| Age at Diagnosis: |
4 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Jaundice
Caesarian section
|
| Additional Information: |
BORN VIA SCHEDULED REPEAT C-SECTION AT 38 WEEKS; MILD JAUNDICE INITIALLY; RSV REQUIRED HOSPITALIZATION AT 6 WEEKS OF AGE |
| Dysmorphic Features |
| |
Microcephaly
|
| Additional Information: |
DYSMORPHIC FACIAL FEATURES |
| Neurological Symptoms |
| |
Hypotonia
Seizures
Sleep abnormalities
Unstable gait
|
| Additional Information: |
GENERALIZED MYOCLONIC SEIZURES; TRUNCAL HYPOTONIA; GENERALIZED EPILEPSY; EEG AT AGE OF 3 WAS ABNORMAL DUE TO POSSIBLE MYOCLONIC SEIZURES, OCCASIONAL GENERALIZED EPILEPTIFORM DISCHARGES, MILD DIFFUSE BACKGROUND SLOWING, EXCESS BETA ACTIVITY; EEG AT AGE OF 5 WAS MODERATELY ABNORMAL DUE TO INFREQUENT BURSTS OF GENERALIZED EPILEPTIFORM DISCHARGE, MORE PROMINENT IN THE LEFT HEMISPHERE; EEG AT AGE OF 7 WAS ABNORMAL DUE TO INTERMITTENT BRIEF BURSTS EPILEPTIFORM DISCHARGES, OCCASIONAL FRONTAL INTERMITTENT RHYTHMIC DELTA ACTIVITY (FRIDA), MILD DIFFUSE BACKGROUND SLOWING, OCCASIONAL BROAD-BASED SLOW WAVE COMPLEXES IN SLEEP; MRI WITH AND WITHOUT GADOLINIUM CONTRAST AT AGE OF 3 SHOWED SUBTLE SIGNAL ABNORMALITY IN THE DENTATE NUCLEI OF UNCERTAIN ETIOLOGY (MILD INCREASED SIGNAL INTENSITY IN THE DENTATE NUCLEI AND T2-WEIGHTED IMAGES OF UNCERTAIN ETIOLOGY); MRI OF THORACIC AND LUMBAR SPINE WERE NEGATIVE |
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
AUDIOLOGY STUDY AT AGE OF 1 FOUND NORMAL HEARING AND MIDDLE EAR FUNCTION BILATERALLY |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
LEG LENGTH DISCREPANCY, RESULTING IN USE OF QUARTER INCH LIFT IN LEFT SHOE |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
|
| Additional Information: |
SPEECH DELAY; DELAYED MILESTONES; SLOW PROGRESSION OF SKILLS, SPEECH PROGRESSING THE MOST; FIRST WORDS AT 18 MONTHS, SITTING AT 9 MONTHS, WALKING AT 18 MONTHS |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Sleep disturbances
|
| Intellectual Disability: |
Mild |
| Additional Information: |
MOTOR AND SPEECH APRAXIA; TROUBLE WITH BOUNDARIES; TROUBLE MAINTAINING FOCUS AND COOPERATION; DIFFICULTY WITH EXPRESSIVE AND RECEPTIVE LANGUAGE; UNINTELLIGIBLE SPEECH; HISTORY OF SNORING AND MILD OBSTRUCTIVE SLEEP APNEA; HAS LITTLE FEAR AND HIGH PAIN TOLERANCE; NEUROPSYCHOLOGICAL EVALUATION INDICATED THE EXCEPTIONALLY LOW RANGE FOR THE FOLLOWING FIELDS: FULL SCALE INTELLIGENCE QUOTIENT, VERBAL COMPREHENSION, NONVERBAL FLUID REASONING, VISUAL MOTOR INTEGRATION, VISUAL SPATIAL, BRIEF ATTENTION/WORKING MEMORY, ADAPTIVE FUNCTION/ACTIVITIES OF DAILY LIVING, AND VOCABULARY ACQUISITION; |
| Additional Information |
| Uncategorized Symptoms: |
DIAGNOSED WITH COVID, EXHIBITING MILD SYMPTOMS |
| Testing Performed |
| Neurological Testing: |
MRI; EEG; ECHO |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Surgeries |
OCCUPATIONAL, PHYSICAL, AND SPEECH THERAPY CONDUCTED VIRTUALLY DUE TO COVID PRECAUTIONS |
| Medications |
| |
LEVETIRACETAM (KEPPRA); DIASTAT |
| Family History |
| |
SIGNIFICANT FOR ANXIETY, DEPRESSION, AND PANCREATIC CANCER |
| Remarks |
See "Phenotypic Data" tab; LCL is GM28333 |