| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
10 MO |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
6 WK |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
HETEROZYGOUS MUTATION IN THE NALCN GENE, VARIANT C.1798 G>C (P.ASP600HIS), RESULTING IN GAC>CAC ON EXON 15. THE MUTATION HAS BEEN CHARACTERIZED IN NEUROPHYSIOLOGY MODELS OF NALCN, WHICH CONFIRMED GAIN-OF FUNCTION IN THE NALCN ION CHANNEL WHICH ALIGNS WITH THE DIAGNOSIS OF CLIFAHDD. |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
FETAL WEEKS |
| Age at Diagnosis: |
6 WEEKS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Additional Information: |
ULNAR DEVIATION |
| Neurological Symptoms |
| |
Hypotonia
|
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
Club foot
|
| Additional Information: |
BILATERAL HIP DYSPLASIA; DISTAL ARTHROGRYPOSIS; HYPERKINETIC MOVEMENTS; ATAXIA |
| Developmental Milestones |
| |
Global developmental delay
|
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
Atrial septal defect
|
| Additional Information: |
VENTRICULAR SEPTAL DEFECT |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Respiratory and Cardiovascular Testing: |
EEG WITH GENERALIZED SLOWING; NORMAL EKG |
| Treatments and Assistive Devices |
| |
|
| Medications |
| Family History |
| Remarks |
Same donor as GM29787 (iPSC). |