Alazami Syndrome (ALAZS)

Alias:
Microcephalic Primordial Dwarfism, Alazami Type
Alazs
Facial Dysmorphism, Intellectual Disability, and Primordial Dwarfism
Facial Dysmorphism Intellectual Disability and Primordial Dwarfism
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Alazami Syndrome, also known as microcephalic primordial dwarfism, alazami type, is related to persistent hyperplastic primary vitreous, autosomal recessive and amed syndrome, digenic. An important gene associated with Alazami Syndrome is LARP7 (La Ribonucleoprotein 7, Transcriptional Regulator). Affiliated tissues include eye and testis, and related phenotypes are widely spaced teeth and intellectual disability, severe
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
<1/1000000
2
39
5

Medical Symptom

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

Gene & Mutation

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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
Journal
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IF
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