| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
5 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
12 MO |
| Age at Diagnosis(If not a control) |
2 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
Other |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE EXOME SEQUENCING OF GENOMIC DNA REVEALED A HETEROZYGOUS LIKELY PATHOGENIC VARIANT (C.52C>T) IN THE WDR45 GENE (RNA REFSEQ NM_007075) RESULTING IN A NONSENSE MUTATION (P.GLN18X). SEQUENCE DATA ALIGNED TO HUMAN GENOME BUILD GRCH37/HG19 |
| Zygosity: |
Heterozygous |
| Other variants: |
WHOLE EXOME SEQUENCING OF GENOMIC DNA REVEALED A HETEROZYGOUS VARIANT OF UNCERTAIN SIGNIFICANCE (C.3613C>T) IN THE CIC GENE (RNA REFSEQ NM_015125) RESULTING IN A MISSENSE MUTATION (P.ARG1205TRP) |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
12 MONTHS |
| Age at Diagnosis: |
2 YEARS |
| In Utero History Information |
| |
Assisted reproduction
|
| Additional Information: |
IVF |
| Birth History Information |
| |
Caesarian section
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Ataxia
Hypotonia
Seizures
Unstable gait
|
| Additional Information: |
SUBTLE BEHAVIORAL ARREST NON-RESPONSIVE SEIZURES; COGNITIVE DELAYS; MRI SHOWED IRON ACCUMULATION IN THE BRAIN; EEG DETECTED IRREGULARLY GENERALIZED EPILEPTIFORM DISCHARGES AND OCCASIONAL, INDEPENDENT LEFT AND RIGHT TEMPORAL SHARP WAVES; CENTRAL HYPOTONIA; ATAXIC BROAD-BASED GAIT; BRAIN ATROPHY; MRI WITHOUT CONTRAST DETECTED DIFFUSELY LOW WHITE MATTER VOLUME WITH THINNING OF THE CORPUS CALLOSUM AND BRAINSTEM AND PROMINENCE OF THE SULCI AND VENTRICLES; |
| Optical and Audiological Symptoms |
| |
Defective vision
|
| Additional Information: |
CEREBRAL VISUAL IMPAIRMENT (CVI); DECREASED EYE CONTACT; BILATERAL BLURRED VISION |
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
|
| Additional Information: |
NON-VERBAL; GROSS/FINE MOTOR ISSUES; ORAL AND VERBAL DYSPRAXIA |
| Gastrointestinal Symptoms |
| |
Constipation
Eating difficulties
|
| Additional Information: |
SLOWER EATING; SWALLOWING PROBLEM; GLUTATHIONE WAS LOW INITIALLY, NOW NORMAL; VITAMIN D DEFICIENCY |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Behavioral problems
Autism spectrum disorder
Sleep disturbances
|
| Additional Information: |
FREQUENT BRUXISM; OCCASIONALLY BREATHHOLD; ABNORMAL BEHAVIORS SUCH AS NOT OBSERVING NORMAL PERSONAL BOUNDARIES; REFLEXES DIFFICULT TO ELICIT; PRESENTS WITH IMPAIRMENTS OF: COORDINATION, MOBILITY, COGNITION, KNOWLEDGE, TEMPORAL ORGANIZATION, ORGANIZATION OF SPACE AND OBJECTS, MEMORY, PERCEPTION, CONTROL OF INTERNAL RESPONSE STATES, SELF-CONSOLING, SENSORY RESPONSES, REACTION TO ENVIRONMENT, AND POSTURING; NO EXPRESSIVE LANGUAGE |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
MRI; EEG |
| Metabolic, Hematologic, and Endocrinologic Testing: |
EVALUATION OF HPA AXIS WAS NORMAL; ELECTRON TRANSPORT CHAIN ANALYSIS DID NOT SHOW ANY DEFICIENCIES |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Orthotics
Communication or learning devices
|
| Additional Testing: |
EYE GAZE DEVICE FOR COMMUNICATION |
| Medications |
| |
LEVETIRACETAM (KEPPRA); SENNOSIDES (SENNA); AQUEOUS VITAMIN D; DIAZEPAM; FLUTICASONE; FEXOFENADINE; MELATONIN |
| Family History |
| |
FATHER HAD LEUKEMIA |
| Remarks |
See "Phenotypic Data" tab |