autosomal recessive intellectual developmental disorder 66

Term ID

DOID:0081227

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13. https://pubmed.ncbi.nlm.nih.gov/27311568/

References

MIM:618221

Ontology

Human Disease ( DOID:0081227 )

Relationships

is a type of: autosomal recessive intellectual developmental disorder

autosomal recessive intellectual developmental disorder Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models