Lipodystrophy - intellectual deficit - deafness (Q60113): Difference between revisions
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Lipodistrofia - déficit intelectual - surdez é caracterizada pela associação de lipodistrofia congênita generalizada, surdez neurossensorial progressiva na primeira infância, déficit intelectual e manifestações esqueléticas caracterizadas por ossos tubulares delgados e submineralizados com tendência a fraturas na adolescência, maturação esquelética retardada e início tardio de estriações metafisárias densas. | |||
| description / en | description / en | ||
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. | |||
Revision as of 07:37, 14 August 2026
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. |
