Disease - Intellectual developmental disorder, autosomal recessive 72
- DefinitionA form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT72 patients manifest moderate to severe intellectual disability, microcephaly, and dysmorphic facial features.
- AcronymMRT72
- Keywords
- Cross references
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Browse 1 entry- rRNA N6-adenosine-methyltransferase METTL5 · Gene: METTL5 · Homo sapiens (Human) · EC:2.1.1.- · 209 amino acids · Evidence at protein level · Annotation score: 5/5