Pallister-Hall-Like Syndrome (PHLS)

Alias:
Hamartoma of Hypothalamus
Phls
Hypothalamic Hamartomas
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Pallister-Hall-Like Syndrome, also known as hamartoma of hypothalamus, is related to hypothalamic hamartomas and hypothalamic hamartomas with gelastic seizures. An important gene associated with Pallister-Hall-Like Syndrome is SMO (Smoothened, Frizzled Class Receptor), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Bardet-Biedl syndrome. Affiliated tissues include hypothalamus and heart, and related phenotypes are postaxial foot polydactyly and hypothalamic hamartoma
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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2
19
5

Medical Symptom

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Description
HPO Frequency
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Gene & Mutation

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Disease Model

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MGI
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References Literature

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