Microphthalmia-ankyloblepharon-intellectual disability syndrome

Orpha code: 85275OMIM code:

Definition

Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.

Disease data
Classification

Malformation syndrome

Synonyms
MCOPS4
MCOPS4
Syndromiczne małoocze typu 4
Syndromic microphthalmia type 4
ORPHA code
85275
OMIM code
-
ICD10 code
Q11.2
ICD11 code
-

No additional description.

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