Klippel-feil syndrome with nemaline myopathy and facial dysmorphism
Disease Term | Disease ID | Gene Symbol | References |
---|---|---|---|
KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM | C4225285 | MYO18B | 27858739, 27879346, 12547197, 25748484, 18761673 |