epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
An epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features characterized by epilepsy, learning difficulties, macrocephaly, and aggressive behavior. It has been described in males from a four-generation kindred. It is transmitted as an X-linked recessive trait and is likely to be caused by mutations in the gene encoding synapsin I (Xp11.3-q12).
MONDO:0002254
syndromic disease
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0000425
X-linked disease
is_a
MONDO:0859390
epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features
is_a
X-linked epilepsy-learning disabilities-behavior disorders syndrome
exact
epilepsy, X-linked, with variable learning disabilities and behavior disorders, X-linked recessive, X-linked dominant
exact
epilepsy, X-linked, with variable learning disabilities and behaviour disorders
related
epilepsy, X-linked, with variable learning disabilities and behaviour disorders, X-linked recessive, X-linked dominant
exact