| Term Name: | neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language |
|---|---|
| Synonyms: | NEDTCHAL |
| Definition: | An autosomal recessive intellectual developmental disorder characterized by microcephaly, thinning of the corpus callosum, intellectual disability, hypotonia, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the EEF1D gene on chromosome 8q24. |
| Ontology: | Human Disease [DOID:0070819] ( DOID:0070819 ) |