microphthalmia, Lenz type
A very rare X-linked inherited form of syndromic microphthalmia characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome.
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
excluded_subClassOf
MONDO:0015217
obsolete non-syndromic developmental defect of the eye (obsolete MONDO:0015217)
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0020237
obsolete lens shape anomaly (obsolete MONDO:0020237)
excluded_subClassOf
MONDO:0100124
NAA10-related syndrome
excluded_subClassOf
MONDO:0016073
syndromic microphthalmia
is_a
Lenz dysplasia
related
Lenz microphthalmia
exact
Lenz microphthamia syndrome
related
MAA (formerly)
related
MCOPS1
related
microphthalmia Lenz type
related
microphthalmia or anophthalmos with associated anomalies (formerly)
related
microphthalmia syndromic 1
related
syndromic microphthalmia type 1
related