autosomal recessive intellectual developmental disorder 77

Term ID

DOID:0081236

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36. https://pubmed.ncbi.nlm.nih.gov/34196201/

References

• OMIM:619988

Ontology

Human Disease   ( DOID:0081236 )