cataract-deafness-hypogonadism syndrome
Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
Schaap-Taylor-Baraitser syndrome
exact
cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature
related