| Term Name: | Carey-Fineman-Ziter syndrome 2 |
|---|---|
| Synonyms: | CFZS2 |
| 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. |
| Ontology: | Human Disease [DOID:0061116] ( DOID:0061116 ) |