Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome

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Name:
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
Description:
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, non-inherited, progressive, post-natal microcephaly, hypotonia, hyperkinesia, absence of speech, strabismus, and midline stereotypic hand movements (e.g. hand washing/rubbing). Additional features include developmental delay, seizures and behavioral disturbances, such as self injury and unexplained crying episodes.
ORPHAcode:
397933
Synonyms:
IQSEC2-related syndromic intellectual disability
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14