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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

MIM:620107

Synonyms

Oral-facial-digital syndrome type XIX [EXACT]

Parent Relationships

is_a orofaciodigital syndrome

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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