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 |
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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 |
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Corpus callosum abnormalities Seizures Structural brain anomaly White matter issues
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Optical and Audiological Symptoms |
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Additional Information: |
OPTIC NERVES WITH 2+ PALLOR |
Musculoskeletal Symptoms |
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Developmental Milestones |
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Delayed speech and language development Global developmental delay
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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 |
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Physical therapy Speech therapy
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Medications |
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DEPAKOTE |
Family History |
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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). |