/syndromic X-linked intellectual disability 34

syndromic X-linked intellectual disability 34

Rare Disease

MONDO:0010501

Also Known As

MRXS34MRXSMLNONO X-linked syndromic intellectual disabilityX-linked syndromic intellectual disability caused by mutation in NONOintellectual developmental disorder, X-linked syndromic 34intellectual disability, X-linked, syndromic 34intellectual disability, X-linked, syndromic type 34macrocephaly-intellectual disability-left ventricular non compaction syndromemental retardation, X-linked, syndromic 34mental retardation, X-linked, syndromic type 34syndromic X-linked intellectual disability Mircsof-Langouet typesyndromic X-linked intellectual disability type 34syndromic X-linked mental retardation Mircsof-Langouet typeintellectual disability, X-linked, syndromic, Mircsof-Langouet typemental retardation, X-linked, syndromic, Mircsof-Langouet type

Definition

Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.