Abruzzo-Erickson syndrome
Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
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ABERS
exact
Abruzzo-Erickson syndrome
exact
CHARGE like syndrome X-linked
related
CHARGE-like syndrome
exact
cleft palate-coloboma-deafness syndrome
exact