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Gombo Syndrome

Alias:
Growth Retardation, Ocular Abnormalities, Microcephaly, Brachydactyly, and Oligophrenia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Gombo Syndrome, also known as growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia, is related to brachydactyly and microcephaly. Affiliated tissues include heart, and related phenotypes are microcephaly and delayed puberty
Related ID：
MALACARDS：GMB001
OMIM：233270

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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4
GMB001

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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