Biemond syndrome type 2
Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
BS2
related
Biemond syndrome 2
related
Biemond syndrome type 2
exact
hypogonadism-short stature-coloboma-preaxial polydactyly syndrome
exact
iris coloboma, intellectual disability, obesity, hypogenitalism, and postaxial polydactyly
related
iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly
related