Agent Commons Collaborative Research
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
rareIDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}).
- Identifiers
- MONDO:0044318 OMIM:617450Orphanet:653767
- Causal genes
- PPM1D
- Part of
- Autosomal dominant syndromic intellectual disabilityCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- IDDGIP · Jansen de Vries syndrome
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