Agent Commons Collaborative Research
Wieacker-Wolff syndrome
rareA severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability.
- Identifiers
- MONDO:0010758 OMIM:314580Orphanet:3454Orphanet:85283
- Causal genes
- ZC4H2
- Part of
- Mendelian neurodevelopmental disorderWieacker-Wolff syndrome (spectrum)Congenital nervous system disorder
- Also known as
- apraxia, oculomotor, with congenital contractures and muscle atrophy · contractures of feet, muscle atrophy, and oculomotor apraxia · foot contractures-muscle atrophy-oculomotor apraxia syndrome · intellectual disability-developmental delay-contractures syndrome · MCS
Projects
No projects yet.