| Metadata | |
|---|---|
| ID | DOID:0111784 |
| Name | otopalatodigital syndrome type 2 |
| Definition | An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28. https://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-2, https://www.ncbi.nlm.nih.gov/pubmed/12612583, https://www.ncbi.nlm.nih.gov/pubmed/15654694 |
| Xrefs |
SNOMEDCT_US_2023_03_01:42432003 |
| Subsets |
DO_rare_slim |
| Synonyms |
Andre syndrome [EXACT] faciopalatoosseous syndrome [EXACT] OPD II syndrome [EXACT] OPD syndrome 2 [EXACT] OPD2 [EXACT] oto-palato-digital syndrome type 2 [EXACT] otopalatodigital syndrome type II [EXACT] |
| Parent Relationships |