aniridia-renal agenesis-psychomotor retardation syndrome
Aniridia - renal agenesis - psychomotor retardation is an extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0024458
disorder of visual system
is_a
Sommer Rathbun Battles syndrome
related
Sommer-Rathbun-Battles syndrome
exact
aniridia partial with unilateral renal agenesis and psychomotor retardation
related
aniridia renal agenesis psychomotor retardation
related