Brachycephaly, Trichomegaly, and Developmental Delay (BTDD)

Alias:
Macinnes Syndrome
Mcins
Btdd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Brachycephaly, Trichomegaly, and Developmental Delay, also known as macinnes syndrome, is related to drug dependence. An important gene associated with Brachycephaly, Trichomegaly, and Developmental Delay is RPS23 (Ribosomal Protein S23). Affiliated tissues include skin, and related phenotypes are depressed nasal bridge and microcephaly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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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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Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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