|
(HPO:0001387) | Joint stiffness | Very frequent [Orphanet] | 322 / 7739 | |||
|
(HPO:0009830) | Peripheral neuropathy | Frequent [Orphanet] | 206 / 7739 | |||
|
(HPO:0001315) | Reduced tendon reflexes | Frequent [Orphanet] | 160 / 7739 | |||
|
(HPO:0002240) | Hepatomegaly | Frequent [Orphanet] | 467 / 7739 | |||
|
(HPO:0005059) | Arthralgia/arthritis | Very frequent [Orphanet] | 141 / 7739 | |||
|
(HPO:0001012) | Multiple lipomas | Very frequent [Orphanet] | 43 / 7739 | |||
|
(HPO:0012032) | Lipoma | 10 / 7739 | ||||
|
(HPO:0009125) | Lipodystrophy | Very frequent [Orphanet] | 54 / 7739 | |||
|
(HPO:0000855) | Insulin resistance | Frequent [Orphanet] | 32 / 7739 | |||
|
(HPO:0001288) | Gait disturbance | Frequent [Orphanet] | 318 / 7739 | |||
|
(HPO:0000951) | Abnormality of the skin | 147 / 7739 | ||||
|
(OMIM) | Somatic and autonomic neuropathy | 1 / 7739 | ||||
|
(OMIM) | Neck collar of fat | 1 / 7739 | ||||
|
(HPO:0000763) | Sensory neuropathy | Frequent [Orphanet] | 78 / 7739 | |||
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |