uveal coloboma-cleft lip and palate-intellectual disability
Uveal coloboma-cleft lip and palate-intellectual disability is characterized by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0003847
hereditary disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
COB1
related
coloboma, cleft lip/palate and intellectual disability syndrome
related
coloboma, cleft lip/palate and mental retardation syndrome
related
coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual disability
related
coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
related
coloboma-microphthalmos syndrome
related
coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate
related
uveal coloboma-cleft lip and palate-intellectual disability
exact
uveal coloboma-cleft lip/palate-intellectual disability syndrome
related
uveal coloboma-cleft lip/palate-mental retardation syndrome
related