Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Absent Language (NEDMHAL)

Alias:
Nedmhal
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Absent Language, is also known as nedmhal. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Hypotonia, and Absent Language is PSMB1 (Proteasome 20S Subunit Beta 1). Related phenotypes are hypotonia and hearing impairment
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
3
1

Medical Symptom

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

Gene & Mutation

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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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PMID
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