Houge-Janssens syndrome 1
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
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
SPAC6F12.12 SPCC188.02