Metadata | |
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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 |