DISEASE: Cleft palate, cardiac defects, and mental retardation
Entry
H02394 Disease
Name
Cleft palate, cardiac defects, and mental retardation
Description
Cleft palate, cardiac defects, and mental retardation (CPCMR) is characterized by atrial or ventricular septal defects, cleft palate, and variable developmental delays and intellectual disability. It has been reported that deletions in MEIS2 can cause this disease. MEIS2 is a homeodomain-containing transcription factor of the TALE superfamily that has been proven important for development.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02394 Cleft palate, cardiac defects, and mental retardation
Douglas G, Cho MT, Telegrafi A, Winter S, Carmichael J, Zackai EH, Deardorff MA, Harr M, Williams L, Psychogios A, Erwin AL, Grebe T, Retterer K, Juusola J
Title
De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
