fountain syndrome
Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
deafness, skeletal dysplasia, lip granuloma
related
deafness-skeletal dysplasia-coarse face with full lips syndrome
exact
deafness-skeletal dysplasia-lip granuloma syndrome
exact
fountain syndrome
exact
intellectual disability, deafness, skeletal abnormalities, coarse face with full lips
related
mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips
related