Female-Restricted Syndromic X-Linked Intellectual Disability 99

Alias:
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Intellectual Disability, X-Linked 99, Syndromic, Female-Restricted
X-Linked Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Syndrome Limited to Females
Female-Restricted Syndromic X-Linked Mental Retardation 99
Mrxs99f
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Female-Restricted Syndromic X-Linked Intellectual Disability 99, also known as x-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability, is related to x-linked female restricted facial dysmorphism-short stature-choanal atresia-inte and intellectual developmental disorder, x-linked 99, syndromic, female-restricted. An important gene associated with Female-Restricted Syndromic X-Linked Intellectual Disability 99 is USP9X (Ubiquitin Specific Peptidase 9 X-Linked), and among its related pathways/superpathways are Cell Cycle, Mitotic and Loss of Nlp from mitotic centrosomes. Affiliated tissues include brain and thyroid, and related phenotypes are global developmental delay and intellectual disability, moderate
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLR
Newborn
<1/1000000
8
31
2

Medical Symptom

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

Gene & Mutation

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Gene
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
Journal
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IF
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