Conditions / Syndrome
AMME complex
info · Syndrome
A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3.
Signs and symptoms
- Hematuria
- Elliptocytosis
- Intellectual disability
- Global developmental delay
- Midface retrusion
- Depressed nasal bridge
- Sensorineural hearing impairment
- Astigmatism
- Prominent fingertip pads
- Inguinal hernia
Also known as: AMME syndrome; ATS-MR; Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; chromosome Xq22.3 telomeric deletion syndrome