Conditions / Genetic
syndromic X-linked intellectual disability Siderius type
info · Genetic
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
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.
Signs and symptoms
- Microcephaly
- Mild intellectual disability
- Long face
- Intellectual disability
- Cleft lip
- Cleft palate
- Upslanted palpebral fissure
- Sloping forehead
- Delayed speech and language development
- Low posterior hairline
Also known as: MRXSSD; Siderius X-linked mental retardation syndrome; Siderius-Hamel syndrome; mental retardation syndrome, X-linked, Siderius type