neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language

Term ID

DOID:0070819

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. https://pubmed.ncbi.nlm.nih.gov/36576126/

References

• MIM:621150
• UMLS_CUI:C6012708

Ontology

Human Disease   ( DOID:0070819 )