Terminology Service for NFDI4Health
syndromic X-linked intellectual disability Najm type
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http://purl.obolibrary.org/obo/MONDO_0010417
Najm type X-linked intellectual deficit is 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. [ ]
Term info
Label
syndromic X-linked intellectual disability Najm type
Synonyms
- MICPCH
- X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
- intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, X-linked dominant
- intellectual disability and microcephaly with pontine and cerebellar hypoplasia
- mental retardation and microcephaly with pontine and cerebellar hypoplasia
- syndromic X-linked intellectual disability Najm type
Subsets
ordo_disease
exactMatch
http://purl.obolibrary.org/obo/Orphanet_163937, http://linkedlifedata.com/resource/umls/id/C2677903, http://identifiers.org/mesh/C567466, https://omim.org/entry/300749, http://purl.obolibrary.org/obo/DOID_0060807
has related synonym
intellectual disability, X-linked, syndromic, Najm type, mental retardation and microcephaly with PONTINE and cerebellar hypoplasia, Micpch syndrome, X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia, intellectual disability and microcephaly with PONTINE and cerebellar hypoplasia, mental retardation, X-linked, syndromic, Najm type, X-linked intellectual disability, Najm type, microcephaly with pontine and cerebellar hypoplasia
id
MONDO:0010417
narrowMatch
https://icd.codes/icd10cm/Q04.3
see also
https://github.com/monarch-initiative/mondo/issues/4521