| Metadata | |
|---|---|
| ID | DOID:0060960 |
| Name | orofaciodigital syndrome XIX |
| Definition | An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21. https://pubmed.ncbi.nlm.nih.gov/36084634/ |
| Xrefs | |
| Synonyms |
Oral-facial-digital syndrome type XIX [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |