X-linked intellectual disability, Najm type

Engelsk navn: X-linked intellectual disability, Najm type
Engelske synonym: MICPCH,X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome


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.

Fra Orphanet

ORPHA: 163937
Klassifiseringsnivå: Disorder
ICD-10: Q04.3

Mer informasjon

Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)