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Definition

A disease characterized by bilateral colobomatous microphthalmia or bilateral anophthalmia, associated with skeletal dysplasia in some cases. Additional ocular findings include microcornea, cataracts, corectopia and nystagmus. Intellectual disability is present in some patients.

Acronym

MCSKS

Synonyms

MCOPS14
Microphthalmia, syndromic, 14
Microphthalmia and coloboma, with or without rhizomelic skeletal dysplasia

Keywords

Microphthalmia

 
Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.

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Main funding by: National Institutes of Health