Intellectual Developmental Disorder, Autosomal Dominant 22 (MRD22)

Alias:
Mrd22
Autosomal Dominant Intellectual Developmental Disorder 22
Mental Retardation, Autosomal Dominant 22
Distal Monosomy 1q
Autosomal Dominant Non-Syndromic Intellectual Disability 22
Mental Retardation, Autosomal Dominant, Type 22
Intellectual Disability, Autosomal Dominant 22
Autosomal Dominant Mental Retardation 22
Telomeric Deletion 1q
Distal Deletion 1q
Monosomy 1qter
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Intellectual Developmental Disorder, Autosomal Dominant 22, also known as mrd22, is related to congenital ptosis, and has symptoms including seizures An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 22 is ZBTB18 (Zinc Finger And BTB Domain Containing 18). Affiliated tissues include brain, and related phenotypes are intellectual disability and seizure
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
--
14
51
16

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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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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