Orphanet: Severe intellectual disability progressive postnatal microcephaly midline stereotypic hand movements syndrome

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

Disease definition

A rare, genetic, syndromic intellectual disability 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.

ORPHA:397933

Classification level: Disorder

Synonym(s):
- IQSEC2-related syndromic intellectual disability
Prevalence: <1 / 1 000 000
Inheritance: X-linked recessive
Age of onset: Infancy, Neonatal
ICD-10: Q87.8
OMIM: 309530
UMLS: C4751568
MeSH: -
GARD: -
MedDRA: -

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

ORPHA:397933

A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()

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