Rubinstein-Taybi syndrome due to CREBBP mutations |
Acrocallosal syndrome |
CREBBP | GLI3 | |||
KIF7 |
INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
CREBBP | (0.88) | GLI3 | |
Citations in the biomedical literature:
Acrocallosal syndrome | |
Very frequent - Autosomal recessive inheritance - Corpus callosum / septum pellucidum total / partial agenesis - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly - Postaxial polydactyly (hand) Frequent - Dandy-Walker anomaly - Fingerlike / triphalangeal thumb - Prominent occiput / occipital bossing - Sloping forehead Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Clavicle absent / abnormal - Diaphragmatic hernia / defect / agenesis - Hypospadias / epispadias / bent penis - Inguinal / inguinoscrotal / crural hernia - Large fontanelle / delayed fontanelle closure - Sensorineural deafness / hearing loss - Tall stature / gigantism / growth acceleration - Undescended / ectopic testes / cryptorchidia / unfixed testes | |
Rubinstein-Taybi syndrome due to CREBBP mutations | |
(no data available) |