| Demographic Data |
| Age at Sampling |
7 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
3 MO |
| Age at Diagnosis(If not a control) |
6 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: |
EXOME ANALYSIS OF GENOMIC DNA REVEALED A DE NOVO HETEROZYGOUS PATHOGENIC VARIANT IN EXON 12 OF THE WDR45 GENE (NM_007075.3) C.1007_1008DELAT (P.Y336CFSX5) |
| Zygosity: |
Heterozygous |
| Other variants: |
SNP MIRCOARRAY ANALYSIS USING WHOLE GENOME OLIGONUCLEOTIDE ARRAY DID NOT REVEAL ANY ABERRATIONS ARR(1-22,X)X2; MITOCHONDRIAL SEQUENCE ANALYSIS DID NOT REVEAL ANY PATHOGENIC VARIANTS |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
3 MONTHS |
| Age at Diagnosis: |
6 YEARS |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
| |
Corpus callosum abnormalities
Dystonia
Hypotonia
Seizures
White matter issues
|
| Additional Information: |
MRI REVEALED ASYMMETRIC DILATION OF THE LEFT LATERAL VENTRICLE, THIN CORPUS CALLOSUM, DIMINISHED WHITE MATTER VOLUME IN THE HEMISPHERES SYMMETRICALLY WITH LINEAR BANDLIKE INCREASED T2 SIGNAL AND FLAIR SIGNAL IN WHITE MATTER SURROUNDING FOURTH VENTRICLE; ABNORMAL EEG DUE TO FOCAL AND BISYNCHRONUS EPILEPTIFORM DISCHARGES |
| Optical and Audiological Symptoms |
| |
Nystagmus
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| Additional Information: |
OPTIC NERVE PALOR; CONGENITAL NYSTAGMUS; DILATED FUNDUS EXAM SHOWED A NORMAL RETINA WITH A CUP:DISK RATIO OF 0.5 |
| Musculoskeletal Symptoms |
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| Developmental Milestones |
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Delayed speech and language development
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| Additional Information: |
DELAYED MOTOR DEVELOPMENT |
| 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 |
| Testing Performed |
| Treatments and Assistive Devices |
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Occupational therapy
Physical therapy
Speech therapy
Orthotics
Communication or learning devices
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| Medications |
| |
VITAMIN E; VITAMIN D; COENZYME Q10; MELATONIN; KEPPRA (SINCE DISCONTINUED); LEVETIRACETAM |
| Family History |