Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome

Alias:
Tsukahara Syndrome
Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation
Giuffre-Tsukahara Syndrome
Giuffré-Tsukahara Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome, also known as tsukahara syndrome, is related to radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation and brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation. Affiliated tissues include bone, and related phenotypes are intellectual disability and scoliosis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Antenatal
<1/1000000
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Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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IF
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