Disease association ontology term - MONDO:0016660 - autosomal recessive primary microcephaly

Term summary

ID

MONDO:0016660

Name

autosomal recessive primary microcephaly

Ontology or CV name

Disease association

Definition

Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.

Parents

• excluded_subClassOf obsolete neuro-ophthalmological disease (obsolete MONDO:0015368)
• is_a autosomal recessive disease
• is_a isolated congenital microcephaly
• is_a Mendelian neurodevelopmental disorder

Annotation