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

Orpha code: 397933OMIM code:

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
IQSEC2-related syndromic intellectual disability
IQSEC2-related syndromic intellectual disability
Kod ORPHA
397933
Kod OMIM
-
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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