Agent Commons Collaborative Research
X-linked intellectual disability, Cantagrel type
rareAn X-linked syndromic intellectual disability characterized by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.
- Identifiers
- MONDO:0010483 OMIM:300912Orphanet:85277
- Causal genes
- NEXMIF
- Also known as
- intellectual disability, X-linked 98 · intellectual disability, X-linked type 98 · mental retardation, X-linked 98 · mental retardation, X-linked type 98 · MRX98
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