| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
7 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
12 MO |
| Age at Diagnosis(If not a control) |
4 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
Asian |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WDR45, C.1025DELG (P.G342FS), FRAMESHIFT, EXON 12 |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
12 MONTHS |
| Age at Diagnosis: |
4 YEARS |
| In Utero History Information |
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| Birth History Information |
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| Additional Information: |
NO COILS IN THE UMBILICAL CORD |
| Dysmorphic Features |
| |
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| Neurological Symptoms |
| |
Corpus callosum abnormalities
Seizures
Structural brain anomaly
White matter issues
|
| Optical and Audiological Symptoms |
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| Additional Information: |
OPTIC NERVES WITH 2+ PALLOR |
| Musculoskeletal Symptoms |
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| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
|
| Sitting Without Assistance: |
Achieved and maintained |
| Walking Without Assistance: |
Not achieved and not maintained |
| Additional Information: |
WALKING WITH ASSISTANCE
NOT BEAR WEIGHT ON ARMS
NOT FOLLOW COMMAND
IN DIAPERS |
| 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: |
HEAD-DROP EPISODES |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
MRI: MILD VENTRICULOMEGALY AND PROMINENT EXTRA AXIAL CSF SAPCES; GLOBAL MILD DIFFUSE WHITE MATTER VOLUME LOSS IN THE SUPRATENTORIAL BRAIN WITH ASSOCIATED THINNING OF THE CORPUS CALLOSUM
EEG: MARKEDLY ABNORMAL, 2-3 HZ POLYSPIKE OR SPIKE-AND-SLOW-WAVE COMPLEXES PRESENT BILATERALLY, OCCURRING IN RUNS |
| Metabolic, Hematologic, and Endocrinologic Testing: |
FERRITIN 11 |
| Treatments and Assistive Devices |
| |
Physical therapy
Speech therapy
|
| Medications |
| |
DEPAKOTE |
| Family History |
| |
ONE UNCLE IS MENTALLY DISABLED |
| Remarks |
Clinically affected. Severe global developmental delay; epilepsy. See Phenotypic Data tab; maintained excellent social interaction; nonverbal; first seizure at 22 months age, lasted one hour; status epilepticus at 3 years of age, lasted 2 hours; EEG indicating Lennox-Gastaut syndrome; de novo mutation in the WDR45 gene c.1025delG (p.G342fs); unaffected mother is GM28084 (lymph), unaffected father is GM28086 (lymph) and unaffected brother is GM28082 (lymph). |