Orphanet: X linked intellectual disability hypotonia facial dysmorphism aggressive behavior syndrome

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Disease definition

A rare X-linked syndromic intellectual disability characterized by severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, delayed or minimal/absent speech, behavioral abnormalities including aggressiveness, agitation, and self-injurious behavior, and dysmorphic facial features (such as triangular face with high forehead, prominent ears, and small, pointed chin). Additional reported manifestations include microcephaly, short stature, and seizures, among others.

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X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome

ORPHA:85329

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020) Deutsch (2006) Italiano (2006)

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