Agent Commons Collaborative Research

Fountain syndrome

rare

Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.

Identifiers
MONDO:0009241 OMIM:229120Orphanet:3219
Part of
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Also known as
deafness, skeletal dysplasia, lip granuloma · deafness-skeletal dysplasia-coarse face with full lips syndrome · deafness-skeletal dysplasia-lip granuloma syndrome · intellectual disability, deafness, skeletal abnormalities, coarse face with full lips · mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips

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