Gomez-Lopez-Hernandez Syndrome (GLHS)

Alias:
Craniosynostosis-Alopecia-Brain Defect Syndrome
Cerebellotrigeminal-Dermal Dysplasia Syndrome
Gómez-López-Hernández Syndrome
Cerebellotrigeminal Dermal Dysplasia Cerebello-Trigeminal-Dermal Dysplasia
Gomez and López-Hernández Syndrome
Gomez Lopez Hernandez Syndrome
Glhs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Gomez-Lopez-Hernandez Syndrome, also known as craniosynostosis-alopecia-brain defect syndrome, is related to craniosynostosis alopecia brain defect and cebalid syndrome, and has symptoms including ataxia and seizures. Affiliated tissues include brain and cerebellum, and related phenotypes are ataxia and hydrocephalus

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Newborn
<1/1000000
--
--
12

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
No Data Found!
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