Term Name: | amelogenesis imperfecta hypomaturation type 2A4 |
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Synonyms: | AI2A4, amelogenesis imperfecta hypomaturation type IIA4, amelogenesis imperfecta type IIA4 |
Definition: | An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21. |
Ontology: | Human Disease [DOID:0110062] ( DOID:0110062 ) |