| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
7 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
6 MO |
| Age at Diagnosis(If not a control) |
3 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: |
WHOLE EXOME SEQUENCING OF GENOMIC DNA REVEALED A LIKELY PATHOGENIC VARIANT (C.490G>T) IN EXON 8 OF THE WDR45 GENE (NM_007075.3) RESULTING IN A NONSENSE MUTATION (P.GLY164TER) |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
6 MONTHS |
| Age at Diagnosis: |
3 YEARS |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
| |
|
| Additional Information: |
MILD DYSMORPHIC FEATURES |
| Neurological Symptoms |
| |
Hypotonia
Seizures
|
| Additional Information: |
BRAIN ATROPHY; MRI REVEALED SYMMETRIC T2 AND SWI HYPOINTENSITY INVOLVING BILATERAL SUBSTANTIA NIGRA, NO DEFINITE SIGNAL ABNORMALITY SEEN IN GLOBUS PALLIDUS OR DENTATE NUCLEI, PROMINENT SUBARACHNOID SPACES; EEGS HAVE SHOWN RUNS OF NOTCHED OIRDA, INTERPRETED TO BE EPILEPTIFORM; RECURRENT PROLONGED FEBRILE SEIZURES SINCE AGE OF 14 MONTHS |
| Optical and Audiological Symptoms |
| |
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| Musculoskeletal Symptoms |
| |
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| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
|
| Additional Information: |
DELAYED DEVELOPMENT; POOR MOTOR FUNCTION; IMPAIRED SPEECH 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 |
| |
Autism spectrum disorder
|
| Intellectual Disability: |
Moderate |
| Additional Information: |
INTELLECTUAL DISABILITY |
| Additional Information |
| Testing Performed |
| Cognitive and Behavioral Testing: |
VERBAL BEHAVIOR MILESTONES ASSESSMENT AND PLACEMENT PROGRAM INDICATED AGE EQUIVALENT ABILITIES OF 18 MONTHS; PRESCHOOL LANGUAGE SCALES INDICATED AGE EQUIVALENT ABILITIES OF 16 MONTHS; LANGUAGE COMPREHENSION INDICATED AGE EQUIVALENT ABILITIES OF 13 MONTHS; EXPRESSIVE LANGUAGE INDICATED AGE EQUIVALENT ABILITIES OF 19 MONTHS |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Medications |
| |
KEPPRA |
| Family History |