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Metadata
ID	DOID:0061115
Name	Carey-Fineman-Ziter syndrome 1
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. https://pubmed.ncbi.nlm.nih.gov/27232676/
Xrefs	MIM:254940
Synonyms	CFZS1 [EXACT]
Parent Relationships	is_a Carey-Fineman-Ziter syndrome is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance