Lipodystrophy - intellectual deficit - deafness (Q60113)
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Lipodystrophy - intellectual deficit - deafness is characterised by the association of generalised congenital lipodystrophy, progressive sensorineural deafness in early childhood, intellectual deficit, and skeletal manifestations characterised by slender, undermineralized tubular bones with a tendency for fractures in adolescence, delayed skeletal maturation, and late-onset dense metaphyseal striations.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_876248189 |
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| English | Lipodystrophy - intellectual deficit - deafness |
Lipodystrophy - intellectual deficit - deafness is characterised by the association of generalised congenital lipodystrophy, progressive sensorineural deafness in early childhood, intellectual deficit, and skeletal manifestations characterised by slender, undermineralized tubular bones with a tendency for fractures in adolescence, delayed skeletal maturation, and late-onset dense metaphyseal striations. |
