Term Name: Carey-Fineman-Ziter syndrome 1
Synonyms: CFZS1
Definition: A Carey-Fineman-Ziter syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the MYMK gene on chromosome 9q34.
Ontology: Human Disease [DOID:0061115]   ( DOID:0061115 )

Relationships
is a type of: autosomal recessive disease Carey-Fineman-Ziter syndrome