Stromme Syndrome (STROMS)

Alias:
Jejunal Atresia with Microcephaly and Ocular Anomalies
Apple Peel Syndrome with Microcephaly and Ocular Anomalies
Lethal Fetal Brain Malformation-Duodenal Atresia-Bilateral Renal Hypoplasia Syndrome
Stroms
Cild31
Apple-Peel Intestinal Atresia-Ocular Anomalies-Microcephaly Syndrome
Apple Peel Syndrome with Microcephaly Ocular Anomalies
Jejunal Atresia-Microcephaly-Ocular Anomalies Syndrome
Jejunal Atresia with Microcephaly Ocular Anomalies
Ciliary Dyskinesia, Primary, 31, Formerly
Dyskinesia, Ciliary, Primary, Type 31
Ciliary Dyskinesia, Primary, 31
Primary Ciliary Dyskinesia 31
Cild31, Formerly
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Stromme Syndrome, also known as jejunal atresia with microcephaly and ocular anomalies, is related to microcephaly and jejunal atresia. An important gene associated with Stromme Syndrome is CENPF (Centromere Protein F). Affiliated tissues include eye and fetal brain, and related phenotypes are accessory spleen and preaxial polydactyly
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
<1/1000000
10
48
23

Medical Symptom

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

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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