Diagnosis is made by sequencing the MYMK gene. Previously diagnosis could be made on clinical features, though brain anomalies could only be determined with an MRI. Differential diagnosis * Native American myopathy * Moebius syndrome
Carey Fineman Ziter syndrome
Sabinas brittle hair syndrome
Rosenthal–Kloepfer syndrome
Weissenbacher–Zweymüller syndrome
Schinzel–Giedion syndrome
Tetra-amelia syndrome
Galloway Mowat syndrome
Melkersson–Rosenthal syndrome