| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
12 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
15 MO |
| 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: |
SMC1A, C.3549_3552DUPGGCC, P.I1185GFS*23, EXON 24 |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
15 MONTHS |
| Age at Diagnosis: |
2 YEARS |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
| |
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| Neurological Symptoms |
| |
Corpus callosum abnormalities
Seizures
Structural brain anomaly
|
| Additional Information: |
INTRACTABLE EPILEPSY |
| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Additional Information: |
FEMORAL ANTEVERSION |
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
|
| Walking Without Assistance: |
Achieved but not maintained |
| Additional Information: |
DEVELOPMENTAL IMPAIRMENT |
| 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 |
| Testing Performed |
| Neurological Testing: |
BRAIN MRI AT 30 MONTHS: MILD ENLARGEMENT OF EXTRA-AXIAL SPACES AND SLIGHTLY THINNING OF CORPUS CALLOSUM; THE TEMPORAL LOBES HAD PROMINENT SULCI AND THE HIPPOCAMPI WERE NOTED TO BE ROUND AND SOMEWHAT SMALLER.
EEG: GENERALIZED EPILEPTIFORM ACTIVITY OR OCCIPITAL ABNORMALITIES. |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Communication or learning devices
|
| Medications |
| |
PHENOBARBITAL, VALPROIC ACID, AND MANY OTHERS |
| Family History |
| |
N/A |
| Remarks |
Clinically affected. Patient B in Goldstein et al. 2015 (PMID: 26386245). See "Phenotypic Data" tab. Seizures began at 17 months. Responded to phenobarbital and valproic acid, did not respond to levetiracetam, oxcarbazepine and topiramate. Facial features of CdLS are not present.
A 12-year-old female with de novo heterozygous mutation in the SMC1A gene (c.3549_3552dupZGGCC, p.I1185Gfs*23). Subject was noted of having intractable epilepsy and developmental impairments during sample submission. |