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 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder