X-linked intellectual deficit, Najm type (Q101730)
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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 |
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| 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. |
