Description:
RETT SYNDROME; RTT
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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|
Cell Type
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B-Lymphocyte
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|
Tissue Type
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Blood
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|
Transformant
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Epstein-Barr Virus
|
|
Sample Source
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DNA from LCL
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|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
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|
Species
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Homo sapiens
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|
Common Name
|
Human
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|
Remarks
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|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Remarks |
Clinically affected; normal period of development; normal head circumference; limited hand use; repetitive hand movements; nonverbal; walks independently; breathing problems; seizures; EEG has minor abnomalities; minor eating difficulties; no reflux; constipation controlled with medication; slightly below normal height/weight for age; some degree of rigidity/spasticity; occasional tremors; grinds teeth often; seldom exhibits self injuriuos behavior; slightly irritable/agitated; occasional sleep difficulty |
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