Ectopia Lentis 2, Isolated, Autosomal Recessive (ECTOL2)

Alias:
Ectol2
Ectopia Lentis, Isolated, Autosomal Recessive
Autosomal Recessive Isolated Ectopia Lentis 2
Ectopia Lentis, Isolated Autosomal Recessive, Type 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ectopia Lentis 2, Isolated, Autosomal Recessive, also known as ectol2, is related to craniosynostosis with ectopia lentis and ectopia lentis et pupillae. An important gene associated with Ectopia Lentis 2, Isolated, Autosomal Recessive is ADAMTSL4 (ADAMTS Like 4), and among its related pathways/superpathways are Diseases of glycosylation and O-linked glycosylation of mucins. Related phenotype is integument.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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7
54
13

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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