Noonan syndrome with multiple lentigines
A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0002254
syndromic disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0020297
Noonan syndrome and Noonan-related syndrome
is_a
Cardiomyopathic lentiginosis
exact
LEOPARD syndrome
exact
Noonan syndrome with multiple lentigines
exact
familial multiple lentigines syndrome
exact
generalised lentiginosis
exact
lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes
related
lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness
exact