disorder of sex development-intellectual disability syndrome
A rare syndrome with 46,XY disorder of sex development characterized by variable degrees of intellectual disability, short stature, severe genital anomalies resulting in sexual ambiguity (such as pseudovaginal perineoscrotal hypospadias and persistence of Müllerian structures), and ocular anomalies (microphthalmia, coloboma). Craniofacial peculiarities (coarse features, deep set eyes), spina bifida, imperforate anus, and sensorineural hearing loss were also described. No new cases have been reported since 1994.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0020040
46 XY differences of sex development
is_a
Male pseudohermaphroditism intellectual disability syndrome, Verloes type
related
Verloes Gillerot Fryns syndrome
related
Verloes-Gillerot-Fryns syndrome
exact
disorder of sex development intellectual disability
related
male pseudohermaphroditism/mental retardation syndrome, Verloes type
related
pseudohermaphroditism-intellectual disability syndrome
exact