| Metadata | |
|---|---|
| ID | DOID:0111789 |
| Name | Frank-Ter Haar syndrome |
| Definition | An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1. https://www.ncbi.nlm.nih.gov/pubmed/15523657, https://www.ncbi.nlm.nih.gov/pubmed/20137777 |
| Xrefs |
SNOMEDCT_US_2023_03_01:720958002 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive Melnick-Needles syndrome [EXACT] Borrone dermatocardioskeletal syndrome [EXACT] FTHS [EXACT] megalocornea, multiple skeletal anomalies, and developmental delay [EXACT] Ter Haar syndrome [EXACT] |
| Parent Relationships |