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Menke-Hennekam syndrome 2 - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Menke-Hennekam syndrome 2
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Accession:EFO:0010253 term browser browse the term
Definition:A form of Menke-Hennekam syndrome, a congenital autosomal dominant disease characterized by developmental delay, growth retardation, and craniofacial dysmorphism. Patients have intellectual disability of variable severity, speech delay, autistic behavior, short stature and microcephaly. Main facial characteristics include short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella and long philtrum. Menke-Hennekam syndrome-2 (MKHK2) is caused by heterozygous mutations in exon 30 or 31 of the EP300 gene.
Synonyms:xref: DOID:9000493;   MIM:618333

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