|
|
(HPO:0000547) | Tapetoretinal degeneration | 11 / 7739 | ||||
|
|
(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
|
(HPO:0001507) | Growth abnormality | 36 / 7739 | ||||
|
|
(HPO:0001820) | Leukonychia | 18 / 7739 | ||||
|
|
(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
|
|
(OMIM) | Opaque leukonychia | 1 / 7739 | ||||
|
|
(OMIM) | Low serum lipids | 1 / 7739 | ||||
|
|
(OMIM) | Retarded physical development | 1 / 7739 | ||||
|
|
(OMIM) | Erythematosquamous eruption | 1 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |