Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies (NEDBGF)

Alias:
Intellectual Disability-Strabismus Syndrome
Nedbgf
Mental Retardation, Autosomal Recessive 36, Formerly
Mental Retardation, Autosomal Recessive, Type 36
Autosomal Recessive Mental Retardation 36
Mrt36, Formerly
Mrt36
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies, also known as intellectual disability-strabismus syndrome, is related to isolated growth hormone deficiency and autosomal recessive intellectual developmental disorder. An important gene associated with Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies is ADAT3 (Adenosine Deaminase TRNA Specific 3), and among its related pathways/superpathways is Organelle biogenesis and maintenance. Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and failure to thrive
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
15
80
5

Medical Symptom

#
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

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
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