Hypo- and Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome

Alias:
Macules Hereditary Congenital Hypopigmented and Hyperpigmented
Westerhof-Beemer-Cormane Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypo- and Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome, also known as macules hereditary congenital hypopigmented and hyperpigmented, is related to hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disabili, and has symptoms including macule Affiliated tissues include skin, and related phenotypes are melanocytic nevus and hypopigmented skin patches
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Basic Information

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

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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