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Frank-Ter Haar syndrome
Summary
- Synonym
-
- Borrone dermatocardioskeletal syndrome
- FTHS
- Ter Haar syndrome
- autosomal recessive Melnick-Needles syndrome
- megalocornea, multiple skeletal anomalies, and developmental delay
- 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.
- Super Class
- autosomal recessive disease otopalatodigital syndrome spectrum disorder
External Links
- Disease Ontology
- DOID:0111789
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| A1X283 | SH3 and PX domain-containing protein 2B |
