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Syndromic X-linked intellectual disability Najm type

MONDO:0010417

A rare cerebellar dysgenesis syndrome characterized 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.

Also known as: MICPCH, MICPCH syndrome, X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, mental retardation and microcephaly with PONTINE and cerebellar hypoplasia, mental retardation and microcephaly with pontine and cerebellar hypoplasia, mental retardation, X-linked, syndromic, Najm type, syndromic X-linked intellectual disability Najm type

33 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Neurodevelopmental disorder (125) Intellectual disability (115) Syndromic disease (24) X-linked disease (16) Human disease (14) Developmental defect during embryogenesis (7) Central nervous system malformation (5)
Trials to join now! 15 Not yet recruiting 5 Not yet finished but already full! 3 Completed 10
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