Visualize Submit Comment

Metadata
ID	DOID:0061116
Name	Carey-Fineman-Ziter syndrome 2
Definition	A Carey-Fineman-Ziter syndrome characterized by motor developmental delay, facial weakness, hypotonia, growth restriction, feeding difficulties, and velopharyngeal insufficiency that has_material_basis_inhomozygous mutation in MYMX gene on chromosome 6p21. https://pubmed.ncbi.nlm.nih.gov/39668186/
Xrefs	MIM:619941
Synonyms	CFZS2 [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