Qazi Markouizos syndrome
Qazi-Markouizos syndrome is characterized principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibers. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
Dysharmonic skeletal maturation - muscular fiber disproportion
exact
Dysharmonic skeletal maturation muscular fiber disproportion
related
Dysharmonic skeletal maturation muscular fibre disproportion
related
Dysharmonic skeletal maturation-muscular fiber disproportion syndrome
exact
Dysharmonic skeletal maturation-muscular fibre disproportion syndrome
exact
Puertorican infant hypotonia syndrome
related
Qazi-Markouizos syndrome
exact
hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fiber type disproportion
related
hypotonia, psychomotor retardation, seizures, delayed and Dysharmonic skeletal maturation, and congenital fibre type disproportion
related