CHIME syndrome
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0015905
syndromic dyslipidemia
is_a
MONDO:0017748
inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
is_a
MONDO:0019287
ectodermal dysplasia syndrome
is_a
MONDO:0024458
disorder of visual system
is_a
MONDO:0100547
cardiogenetic disease
is_a
CHIME
related
CHIME syndrome
exact
PIGL-CDG
exact
Zunich-Kaye syndrome
exact
coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome
related
coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome
related
coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
exact
congenital disorder of glycosylation due to PIGL deficiency
exact
neuroectodermal dysplasia, CHIME type
exact
neuroectodermal syndrome, Zunich type
exact
SPAPB2B4.01c