Nathalie syndrome
Nathalie syndrome is characterized by deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics, and electrocardiographic abnormalities. It has been described in a Dutch family: in three sisters (one named Nathalie) and their brother.
MONDO:0002254
syndromic disease
is_a
Nathalie syndrome
exact
deafness, cataract, muscular atrophy, skeletal abnormalities, growth retardation, underdeveloped secondary sexual characteristics
related
deafness-cataract-skeletal anomalies syndrome
exact
deafness-cataracts-skeletal anomalies syndrome
exact
sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome
exact