X-linked intellectual deficit, Najm type (Q101730): Difference between revisions
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Déficit intelectual ligado ao X, tipo Najm, é uma síndrome rara de disgenesia cerebelar caracterizada por manifestações clínicas variáveis que vão desde déficit intelectual leve com ou sem nistagmo congênito, a comprometimento cognitivo grave associado a hipoplasia/atrofia cerebelar e pontina e anormalidades do desenvolvimento cortical. | |||
| description / en | description / en | ||
X-linked intellectual deficit, Najm type, is a rare cerebellar dysgenesis syndrome characterised by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development. | |||
Revision as of 18:34, 16 August 2026
X-linked intellectual deficit, Najm type, is a rare cerebellar dysgenesis syndrome characterised by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1426958919 |
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| English | X-linked intellectual deficit, Najm type |
X-linked intellectual deficit, Najm type, is a rare cerebellar dysgenesis syndrome characterised by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development. |
