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syndromic X-linked intellectual disability Siderius type

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Uniprot Description A syndrome characterized by mild to borderline mental retardation with or without cleft lip/cleft palate.
Disease Ontology Description A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22.
Mondo Term and Equivalent IDs
MONDO:0010286:  syndromic X-linked intellectual disability Siderius type
GARD:0009704: 
MESH:C537333: 
Orphanet:85287: 
UMLS:C1846055: