syndromic X-linked intellectual disability 34
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.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0020119
X-linked syndromic intellectual disability
is_a
MRXS34
exact
MRXSML
exact
NONO X-linked syndromic intellectual disability
exact
X-linked syndromic intellectual disability caused by mutation in NONO
exact
intellectual developmental disorder, X-linked syndromic 34
exact
intellectual disability, X-linked, syndromic 34
exact
intellectual disability, X-linked, syndromic type 34
exact
macrocephaly-intellectual disability-left ventricular non compaction syndrome
exact
mental retardation, X-linked, syndromic 34
exact
mental retardation, X-linked, syndromic type 34
exact
mental retardation, X-linked, syndromic, Mircsof-Langouet type
related
syndromic X-linked intellectual disability Mircsof-Langouet type
exact
syndromic X-linked intellectual disability type 34
exact