Genopathy
Gene-Disorder Association · Article
Gene
SPG16
Spastic Paraplegia 16 (Complicated, X-Linked Recessive)
Disorder
Spastic Paraplegia 16, X-Linked
First reported 1976
Key publication · disorder A spinal arteriovenous malformation with hereditary cutaneous hemangiomas.American journal of diseases of children (1960) · 1976
Manually curated
Association Review

In brief

The association between SPG16 (Spastic Paraplegia 16 (Complicated, X-Linked Recessive)) and Spastic Paraplegia 16, X-Linked is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a causative germline mutation.

Sources 2
Clinical variants 0
Symptoms 44
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
Spastic Paraplegia 16, X-Linked

The disorder

10 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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04
Phenotype

Clinical features

28 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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05
Provenance

References & sources

5 references

Every source and publication cited across this dossier, as one numbered reference list.

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