Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs (FDLAB)

Alias:
Traboulsi Syndrome
Facial Dysmorphism-Lens Dislocation-Anterior Segment Abnormalities-Spontaneous Filtering Blebs Syndrome
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
Shawaf-Traboulsi Syndrome
Fdlab
Facial Dysmorphism-Lens Dislocation-Anterior Segment Abnormalities-Nontraumatic Conjunctive Cysts Syndrome
Fdlab Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs, also known as traboulsi syndrome, is related to isolated ectopia lentis and velocardiofacial syndrome. An important gene associated with Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs is ASPH (Aspartate Beta-Hydroxylase). Affiliated tissues include eye, and related phenotypes are microphthalmia and wide nose
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
1
3
7

Medical Symptom

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

Gene & Mutation

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Function
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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PMID
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