|
|
(HPO:0000256) | Macrocephaly | Very frequent [Orphanet] | 298 / 7739 | |||
|
|
(HPO:0000275) | Narrow face | Very frequent [Orphanet] | 76 / 7739 | |||
|
|
(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
|
|
(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
|
|
(HPO:0001315) | Reduced tendon reflexes | Very frequent [Orphanet] | 160 / 7739 | |||
|
|
(HPO:0002093) | Respiratory insufficiency | Frequent [Orphanet] | 410 / 7739 | |||
|
|
(HPO:0002486) | Myotonia | Very frequent [Orphanet] | 29 / 7739 | |||
|
|
(HPO:0003202) | Skeletal muscle atrophy | Very frequent [Orphanet] | 281 / 7739 | |||
|
|
(HPO:0003457) | EMG abnormality | Very frequent [Orphanet] | 78 / 7739 | |||
|
|
(HPO:0010628) | Facial palsy | Very frequent [Orphanet] | 146 / 7739 | |||
|
|
(HPO:0002705) | High, narrow palate | Very frequent [Orphanet] | 308 / 7739 | |||
|
|
(HPO:0030089) | Abnormal muscle fiber protein expression | Very frequent [Orphanet] | 64 / 7739 | |||
|
|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |