| Metadata | |
|---|---|
| ID | DOID:0070819 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070819 Copy |
| Name | neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language |
| 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/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621150 exactMatch UMLS_CUI:C6012708 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDTCHAL [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |