OntologyTerm
Menke-Hennekam syndrome 2

released
   December 12th, 2019 at 12:21am

Details


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. (EFO)
namespace 
http://www.ebi.ac.uk/efo
preferred_name 
Menke-Hennekam syndrome 2
source_ontologies 
term_id 
EFO:0010253
term_name 
Menke-Hennekam syndrome 2
term_url 
http://www.ebi.ac.uk/efo/EFO_0010253