Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures (NEDHYMS)

External Ids:

OMIM 56 618862

OMIM : ⁵⁶ Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) is an autosomal recessive disorder characterized by global developmental delay with axial hypotonia, inability to sit or walk, and severely impaired intellectual development with absent language. Most patients develop early-onset intractable seizures that prevent normal development. Additional features include feeding difficulties with poor overall growth and microcephaly. Some patients may have spastic quadriplegia, poor eye contact due to cortical blindness, variable dysmorphic features, and nonspecific abnormalities on brain imaging (summary by Tan et al., 2020). (618862)

MalaCards based summary : Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures, is also known as nedhyms. An important gene associated with Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures is ADARB1 (Adenosine Deaminase RNA Specific B1). Affiliated tissues include eye and brain.

Clinical features from OMIM:

618862

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures.