X-linked intellectual disability-hypotonic facies syndrome is an X-linked recessive condition characterized by moderate to severe intellectual disability, short stature, hypotonia, and distinctive facial features. It has been reported that mutations in ATRX gene cause this syndrome.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H02583 X-linked intellectual disability-hypotonic facies syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06512 Chromosome cohesion and segregation
H02583 X-linked intellectual disability-hypotonic facies syndrome
