Houge-Janssens syndrome 1
An autosomal dominant intellectual developmental disorder that has material basis in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1.
MONDO:0015802
autosomal dominant non-syndromic intellectual disability
excluded_subClassOf
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0100601
autosomal dominant syndromic intellectual disability
is_a
MONDO:0957553
Houge-Janssens syndrome
is_a
MRD35
exact
autosomal dominant intellectual disability 35
exact
intellectual disability, autosomal dominant 35
related
intellectual disability, autosomal dominant type 35
exact
intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
exact
mental retardation, autosomal dominant 35
related
mental retardation, autosomal dominant type 35
exact
SPCC188.02 SPAC6F12.12