Autosomal recessive lower motor neuron disease with childhood onset (Q103442)
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A single consanguineous family from Mali was reported to develop severe features of distal spinal muscular atrophy in early childhood. Respiratory failure was documented in a proportion of patients. A homozygous mutation in the PLEKHG5 gene (1p36.31) was identified.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1852084767 |
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| English | Autosomal recessive lower motor neuron disease with childhood onset |
A single consanguineous family from Mali was reported to develop severe features of distal spinal muscular atrophy in early childhood. Respiratory failure was documented in a proportion of patients. A homozygous mutation in the PLEKHG5 gene (1p36.31) was identified. |
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CID11:ID_1852084767
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dki-india-ID_1852084767
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