Disease - Anauxetic dysplasia 2
- DefinitionAn autosomal recessive spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability.
- AcronymANXD2
- Keywords
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Browse 1 entry- Ribonucleases P/MRP protein subunit POP1 · Gene: POP1 (KIAA0061) · Homo sapiens (Human) · 1024 amino acids · Evidence at protein level · Annotation score: 5/5