Term Name: mosaic variegated aneuploidy syndrome 2
Synonyms:
Definition: A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21.
Ontology: Human Disease [DOID:0080142]   ( DOID:0080142 )

Relationships
is a type of: autosomal recessive disease mosaic variegated aneuploidy syndrome