| Disease ID | Source | Name | Description |
| 617146 | OMIM | Arthrogryposis, distal, with impaired proprioception and touch (DAIPT) | A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DAIPT is an autosomal recessive disease characterized by selective loss of discriminative touch perception, ataxia, difficulty walking, dysmetria, and progressive skeletal contractures. The disease is caused by variants affecting the gene represented in this entry. |
| 108145 | OMIM | Arthrogryposis, distal, 5 (DA5) | A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5 features include ocular abnormalities, typically ptosis, ophthalmoplegia and/or strabismus, in addition to contractures of the skeletal muscles. Some patients have pulmonary hypertension as a result of restrictive lung disease. The disease is caused by variants affecting the gene represented in this entry. |
| 114300 | OMIM | Arthrogryposis, distal, 3 (DA3) | A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA3 features include short stature and cleft palate. The disease is caused by variants affecting the gene represented in this entry. |
| 248700 | OMIM | Marden-Walker syndrome (MWKS) | A syndrome characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, kyphoscoliosis, pectus excavatum or carinatum, and arachnodactyly. Additional features include decreased muscular mass, failure to thrive, renal anomalies, hypoplastic corpus callosum, cerebellar vermis hypoplasia, enlarged cisterna magna, and psychomotor retardation. The disease is caused by variants affecting the gene represented in this entry. |