has material basis in germline mutation in NONO congenital nervous system disorder syndromic X-linked intellectual disability 34 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/intellectual_developmental_disorder_x_linked_syndromic_34 https://www.malacards.org/card/syndromic_x_linked_intellectual_disability_34 intellectual developmental disorder, X-linked syndromic 34 Orphanet:466791 UMLS:C4225417 MRXS34 intellectual disability, X-linked, syndromic type 34 MRXSML syndromic X-linked intellectual disability type 34 intellectual disability, X-linked, syndromic 34 syndromic X-linked intellectual disability Mircsof-Langouet type MONDO:0010501 DOID:0060817 macrocephaly-intellectual disability-left ventricular non compaction syndrome OMIM:300967 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. mental retardation, X-linked, syndromic type 34 mental retardation, X-linked, syndromic 34 intellectual disability, X-linked, syndromic, Mircsof-Langouet type X-linked syndromic intellectual disability caused by mutation in NONO GARD:0017832 mental retardation, X-linked, syndromic, Mircsof-Langouet type NONO X-linked syndromic intellectual disability MEDGEN:902184 multiple congenital anomalies/dysmorphic syndrome-intellectual disability X-linked syndromic intellectual disability