| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
4 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
1 MO |
| Age at Diagnosis(If not a control) |
3 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
Asiatic Indian |
| 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 DE NOVO HETEROZYGOUS PATHOGENIC VARIANT (C.5018DUPG) IN THE CACNA1A GENE (NM_001127221.1) RESULTING IN A FRAMESHIFT MUTATION (P.GLN1674SERFSX43) IN EXON 32. |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
1 MONTH |
| Age at Diagnosis: |
2.5 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Ataxia
Hypotonia
Seizures
|
| Additional Information: |
FEBRILE SEIZURES |
| Optical and Audiological Symptoms |
| |
Nystagmus
|
| Additional Information: |
MYOPIA; EPISODIC DOWNBEAT VERTICAL NYSTAGMUS |
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Global developmental delay
|
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Orthotics
glasses
|
| Medications |
| |
DIAMOX; ATROPINE |
| Family History |
| |
PARENTS DO NOT HARBOR THE C.5018DUPG VARIANT IN CACNA1A |
| Remarks |
See "Phenotypic Data" tab |