Date Panel Item Activity
1 actions
Intellectual disability v2.398 ISCA-37424-Loss Louise Daugherty Region: ISCA-37424-Loss was added
Region: ISCA-37424-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37424-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37424-Loss were set to 25217958; 20345475; 21248748; 24550761
Phenotypes for Region: ISCA-37424-Loss were set to PMID 20345475 macrocephaly, hypertelorism, and arachnodactyly, and neurodevelopmental delay that includes failure to thrive, hypotonia, and feeding difficulties in the neonatal period, and receptive and expressive language delay with global neurodevelopmental delay after the neonatal period. PMID: 21248748 developmental delay, mainly affecting speech. In addition, macrocephaly, mild facial dysmorphisms, cerebellar anomalies, cardiac defects and congenital breast aplasia; PMID: 25217958 none specified; PMID: 24550761 age-appropriate language development evaluated by a standardized test at an age of 2 years and 3 months. The boy was born with a cleft palate - a feature not present in any of the patients described before, phenotype of patients with an LCR3/4-flanked 10q22.3q23.2 deletion can be rather variable