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 |
Country |
USA |
|
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 |
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Birth History Information |
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Dysmorphic Features |
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Additional Information: |
ULNAR DEVIATION |
Neurological Symptoms |
|
Hypotonia
|
Optical and Audiological Symptoms |
|
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Musculoskeletal Symptoms |
|
Club foot
|
Additional Information: |
BILATERAL HIP DYSPLASIA; DISTAL ARTHROGRYPOSIS; HYPERKINETIC MOVEMENTS; ATAXIA |
Developmental Milestones |
|
Global developmental delay
|
Gastrointestinal Symptoms |
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Genitourinary Symptoms |
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Respiratory and Cardiovascular Symptoms |
|
Atrial septal defect Breathing irregularities
|
Additional Information: |
VENTRICULAR SEPTAL DEFECT |
Cognitive and Behavioral Symptoms |
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Additional Information |
Testing Performed |
Respiratory and Cardiovascular Testing: |
EEG WITH GENERALIZED SLOWING; NORMAL EKG |
Treatments and Assistive Devices |
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Medications |
Family History |
Remarks |
Same donor as GM29788 (fibroblast). Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune. |