Disease - Menke-Hennekam syndrome 2
- DefinitionA 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.
- AcronymMKHK2
- Keywords
- Cross references
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Browse 1 entry- Histone acetyltransferase p300 · Gene: EP300 (P300) · Homo sapiens (Human) · EC:2.3.1.48 · 2414 amino acids · Evidence at protein level · Annotation score: 5/5