RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment
An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, facial dysmorphism, and microcephaly. Caused by compound heterozygous mutation in the DOHH gene on chromosome 19p13.
Synonyms:
exact_synonym:
DOHH RELATED NEURODEVELOPMENTAL DISORDER; DOHH-RELATED CONDITION; NEDMVIC