Houge-Janssens syndrome 1

MONDO:0014602

An autosomal dominant intellectual developmental disorder that has material basis in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1.

Also known as: MRD35, autosomal dominant intellectual disability 35, intellectual disability, autosomal dominant type 35, intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome, mental retardation, autosomal dominant type 35, autosomal dominant non-syndromic intellectual disability 35, intellectual disability, autosomal dominant 35, mental retardation, autosomal dominant 35

0 clinical trials for this condition and its sub-types, 0 tagged with Houge-Janssens syndrome 1 itself.

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↑ Congenital nervous system disorder (284) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Autosomal dominant syndromic intellectual disability (15) ↑ Houge-Janssens syndrome (0)

Including sub-types (0) Tagged with Houge-Janssens syndrome 1 (0)

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