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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessFloppy infant, differential diagnosis

Request form illness

Summary

Short information

Many mutated genes can cause floppiness of an infant.

ID
HP5858
Number of genes
2 Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
1.002,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
TecExom999999
  • No OMIM-Gs linked
n.k.
UBE3A2559NM_130838.4AD

Informations about the disease

Synonyms
  • ... limb girdle musc. dystrophies, rhabdomyolysis + metabolic muscle disorders...
  • ... myasthenic syndromes, cong. muscular dystrophies, motor neuronopathies, dist. myopathies ...
  • Alias. muscle hypotonia
  • Alias: muskuläre Hypotonie
  • Including causes like intellectual disability, inborn errors of metabolism, cong. myopathies ...
Heredity, heredity patterns etc.
  • AD
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined