released
December 12th, 2019 at 12:21am
Details
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-1 (MKHK1) is caused by heterozygous mutation in exon 30 or 31 of the CREBBP gene. (EFO)
namespace
http://www.ebi.ac.uk/efo
preferred_name
Menke-Hennekam syndrome 1
source_ontologies
term_id
EFO:0010252
term_name
Menke-Hennekam syndrome 1
term_url
http://www.ebi.ac.uk/efo/EFO_0010252