Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bb377944343eef32627665ff1a17ed922> ?p ?o ?g. }
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- Bb377944343eef32627665ff1a17ed922 hasDbXref "Orphanet:2952" @default.
- Bb377944343eef32627665ff1a17ed922 type Axiom @default.
- Bb377944343eef32627665ff1a17ed922 annotatedProperty IAO_0000115 @default.
- Bb377944343eef32627665ff1a17ed922 annotatedSource MONDO_0008724 @default.
- Bb377944343eef32627665ff1a17ed922 annotatedTarget "A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism ("myopathic" stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, mierogenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema (in the first days of life) are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983." @default.