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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
Amyotrophic Lateral Sclerosis 1
USH2A c.8559-2A>G
Cystic Fibrosis
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Rare Disease
19p13.12 Microdeletion Syndrome
Alias:
Monosomy 19p13.12
Del(19)(p13.12)
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
19p13.12 Microdeletion Syndrome, also known as monosomy 19p13.12, is related to hypertrichosis and branchial arch defects. Related phenotypes are global developmental delay and delayed speech and language development
Related ID:
MALACARDS:19P001
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Newborn
<1/1000000
--
--
--
19P001
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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