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Houge-Janssens syndrome 1
rareAn autosomal dominant intellectual developmental disorder that has material basis in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1.
- Identifiers
- MONDO:0014602 OMIM:616355Orphanet:457279
- Causal genes
- PPP2R5D
- Part of
- Houge-Janssens syndromeAutosomal dominant syndromic intellectual disabilityCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- autosomal dominant intellectual disability 35 · intellectual disability, autosomal dominant 35 · intellectual disability, autosomal dominant type 35 · intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome · mental retardation, autosomal dominant 35
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