| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
5 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
1 WK |
| Age at Diagnosis(If not a control) |
2 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: |
HETEROZYGOUS MUTATION IN KIF1A (NM_004321.7,HG19): C.914C>T (P305L) |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Seizures
|
| Additional Information: |
CEREBELLAR ATROPHY; DELAYED MYELINATION; LEG SPASTICITY |
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
CORTICAL VISION IMPAIRMENT |
| 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 |
| |
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| Medications |
| Family History |